Impacts of massively parallel sequencing for genetic diagnosis of neuromuscular disorders

go back to reference Abbs S, Bobrow M (1992) Analysis of quantitative PCR for the diagnosis of deletion and duplication carriers in the dystrophin gene. J Med Genet 29(3):191–196PubMedCrossRef Abbs S, Bobrow M (1992) Analysis of quantitative PCR for the diagnosis of deletion and duplication carriers in the dystrophin gene. J Med Genet 29(3):191–196PubMedCrossRef

go back to reference Adzhubei IA, Schmidt S, Peshkin L, Ramensky VE, Gerasimova A, Bork P, Kondrashov AS, Sunyaev SR (2010) A method and server for predicting damaging missense mutations. Nat Methods 7(4):248–249. doi:10.1038/nmeth0410-248 PubMedCrossRef Adzhubei IA, Schmidt S, Peshkin L, Ramensky VE, Gerasimova A, Bork P, Kondrashov AS, Sunyaev SR (2010) A method and server for predicting damaging missense mutations. Nat Methods 7(4):248–249. doi:10.​1038/​nmeth0410-248 PubMedCrossRef

go back to reference Alias L, Bernal S, Fuentes-Prior P, Barcelo MJ, Also E, Martinez-Hernandez R, Rodriguez-Alvarez FJ, Martin Y, Aller E, Grau E, Pecina A, Antinolo G, Galan E, Rosa AL, Fernandez-Burriel M, Borrego S, Millan JM, Hernandez-Chico C, Baiget M, Tizzano EF (2009) Mutation update of spinal muscular atrophy in Spain: molecular characterization of 745 unrelated patients and identification of four novel mutations in the SMN1 gene. Hum Genet 125(1):29–39. doi:10.1007/s00439-008-0598-1 PubMedCrossRef Alias L, Bernal S, Fuentes-Prior P, Barcelo MJ, Also E, Martinez-Hernandez R, Rodriguez-Alvarez FJ, Martin Y, Aller E, Grau E, Pecina A, Antinolo G, Galan E, Rosa AL, Fernandez-Burriel M, Borrego S, Millan JM, Hernandez-Chico C, Baiget M, Tizzano EF (2009) Mutation update of spinal muscular atrophy in Spain: molecular characterization of 745 unrelated patients and identification of four novel mutations in the SMN1 gene. Hum Genet 125(1):29–39. doi:10.​1007/​s00439-008-0598-1 PubMedCrossRef

go back to reference Andersen PS, Havndrup O, Hougs L, Sorensen KM, Jensen M, Larsen LA, Hedley P, Thomsen AR, Moolman-Smook J, Christiansen M, Bundgaard H (2009) Diagnostic yield, interpretation, and clinical utility of mutation screening of sarcomere encoding genes in Danish hypertrophic cardiomyopathy patients and relatives. Hum Mutat 30(3):363–370. doi:10.1002/humu.20862 PubMedCrossRef Andersen PS, Havndrup O, Hougs L, Sorensen KM, Jensen M, Larsen LA, Hedley P, Thomsen AR, Moolman-Smook J, Christiansen M, Bundgaard H (2009) Diagnostic yield, interpretation, and clinical utility of mutation screening of sarcomere encoding genes in Danish hypertrophic cardiomyopathy patients and relatives. Hum Mutat 30(3):363–370. doi:10.​1002/​humu.​20862 PubMedCrossRef

go back to reference Bartoli M, Negre P, Wein N, Bourgeois P, Pecheux C, Levy N, Krahn M (2012) Validation of comparative genomic hybridization arrays for the detection of genomic rearrangements of the calpain-3 and dysferlin genes. Clin Genet 81(1):99–101. doi:10.1111/j.1399-0004.2011.01708.x PubMedCrossRef Bartoli M, Negre P, Wein N, Bourgeois P, Pecheux C, Levy N, Krahn M (2012) Validation of comparative genomic hybridization arrays for the detection of genomic rearrangements of the calpain-3 and dysferlin genes. Clin Genet 81(1):99–101. doi:10.​1111/​j.​1399-0004.​2011.​01708.​x PubMedCrossRef

go back to reference Beggs AH, Koenig M, Boyce FM, Kunkel LM (1990) Detection of 98 % of DMD/BMD gene deletions by polymerase chain reaction. Hum Genet 86(1):45–48PubMedCrossRef Beggs AH, Koenig M, Boyce FM, Kunkel LM (1990) Detection of 98 % of DMD/BMD gene deletions by polymerase chain reaction. Hum Genet 86(1):45–48PubMedCrossRef

go back to reference Belaya K, Finlayson S, Slater CR, Cossins J, Liu WW, Maxwell S, McGowan SJ, Maslau S, Twigg SR, Walls TJ, Pascual Pascual SI, Palace J, Beeson D (2012) Mutations in DPAGT1 cause a limb-girdle congenital myasthenic syndrome with tubular aggregates. Am J Hum Genet 91(1):193–201. doi:10.1016/j.ajhg.2012.05.022 PubMed Belaya K, Finlayson S, Slater CR, Cossins J, Liu WW, Maxwell S, McGowan SJ, Maslau S, Twigg SR, Walls TJ, Pascual Pascual SI, Palace J, Beeson D (2012) Mutations in DPAGT1 cause a limb-girdle congenital myasthenic syndrome with tubular aggregates. Am J Hum Genet 91(1):193–201. doi:10.​1016/​j.​ajhg.​2012.​05.​022 PubMed

go back to reference Bell CJ, Dinwiddie DL, Miller NA, Hateley SL, Ganusova EE, Mudge J, Langley RJ, Zhang L, Lee CC, Schilkey FD, Sheth V, Woodward JE, Peckham HE, Schroth GP, Kim RW, Kingsmore SF (2011) Carrier testing for severe childhood recessive diseases by next-generation sequencing. Sci Transl Med 3(65):65ra64. doi:10.1126/scitranslmed.3001756 Bell CJ, Dinwiddie DL, Miller NA, Hateley SL, Ganusova EE, Mudge J, Langley RJ, Zhang L, Lee CC, Schilkey FD, Sheth V, Woodward JE, Peckham HE, Schroth GP, Kim RW, Kingsmore SF (2011) Carrier testing for severe childhood recessive diseases by next-generation sequencing. Sci Transl Med 3(65):65ra64. doi:10.​1126/​scitranslmed.​3001756

go back to reference Bentley DR, Balasubramanian S, Swerdlow HP, Smith GP, Milton J, Brown CG, Hall KP, Evers DJ, Barnes CL, Bignell HR, Boutell JM, Bryant J, Carter RJ, Keira Cheetham R, Cox AJ, Ellis DJ, Flatbush MR, Gormley NA, Humphray SJ, Irving LJ, Karbelashvili MS, Kirk SM, Li H, Liu X, Maisinger KS, Murray LJ, Obradovic B, Ost T, Parkinson ML, Pratt MR, Rasolonjatovo IM, Reed MT, Rigatti R, Rodighiero C, Ross MT, Sabot A, Sankar SV, Scally A, Schroth GP, Smith ME, Smith VP, Spiridou A, Torrance PE, Tzonev SS, Vermaas EH, Walter K, Wu X, Zhang L, Alam MD, Anastasi C, Aniebo IC, Bailey DM, Bancarz IR, Banerjee S, Barbour SG, Baybayan PA, Benoit VA, Benson KF, Bevis C, Black PJ, Boodhun A, Brennan JS, Bridgham JA, Brown RC, Brown AA, Buermann DH, Bundu AA, Burrows JC, Carter NP, Castillo N, Chiara ECM, Chang S, Neil Cooley R, Crake NR, Dada OO, Diakoumakos KD, Dominguez-Fernandez B, Earnshaw DJ, Egbujor UC, Elmore DW, Etchin SS, Ewan MR, Fedurco M, Fraser LJ, Fuentes Fajardo KV, Scott Furey W, George D, Gietzen KJ, Goddard CP, Golda GS, Granieri PA, Green DE, Gustafson DL, Hansen NF, Harnish K, Haudenschild CD, Heyer NI, Hims MM, Ho JT, Horgan AM, Hoschler K, Hurwitz S, Ivanov DV, Johnson MQ, James T, Huw Jones TA, Kang GD, Kerelska TH, Kersey AD, Khrebtukova I, Kindwall AP, Kingsbury Z, Kokko-Gonzales PI, Kumar A, Laurent MA, Lawley CT, Lee SE, Lee X, Liao AK, Loch JA, Lok M, Luo S, Mammen RM, Martin JW, McCauley PG, McNitt P, Mehta P, Moon KW, Mullens JW, Newington T, Ning Z, Ling Ng B, Novo SM, O’Neill MJ, Osborne MA, Osnowski A, Ostadan O, Paraschos LL, Pickering L, Pike AC, Chris Pinkard D, Pliskin DP, Podhasky J, Quijano VJ, Raczy C, Rae VH, Rawlings SR, Chiva Rodriguez A, Roe PM, Rogers J, Rogert Bacigalupo MC, Romanov N, Romieu A, Roth RK, Rourke NJ, Ruediger ST, Rusman E, Sanches-Kuiper RM, Schenker MR, Seoane JM, Shaw RJ, Shiver MK, Short SW, Sizto NL, Sluis JP, Smith MA, Ernest Sohna Sohna J, Spence EJ, Stevens K, Sutton N, Szajkowski L, Tregidgo CL, Turcatti G, Vandevondele S, Verhovsky Y, Virk SM, Wakelin S, Walcott GC, Wang J, Worsley GJ, Yan J, Yau L, Zuerlein M, Mullikin JC, Hurles ME, McCooke NJ, West JS, Oaks FL, Lundberg PL, Klenerman D, Durbin R, Smith AJ (2008) Accurate whole human genome sequencing using reversible terminator chemistry. Nature 456(7218):53–59. doi:10.1038/nature07517 PubMedCrossRef Bentley DR, Balasubramanian S, Swerdlow HP, Smith GP, Milton J, Brown CG, Hall KP, Evers DJ, Barnes CL, Bignell HR, Boutell JM, Bryant J, Carter RJ, Keira Cheetham R, Cox AJ, Ellis DJ, Flatbush MR, Gormley NA, Humphray SJ, Irving LJ, Karbelashvili MS, Kirk SM, Li H, Liu X, Maisinger KS, Murray LJ, Obradovic B, Ost T, Parkinson ML, Pratt MR, Rasolonjatovo IM, Reed MT, Rigatti R, Rodighiero C, Ross MT, Sabot A, Sankar SV, Scally A, Schroth GP, Smith ME, Smith VP, Spiridou A, Torrance PE, Tzonev SS, Vermaas EH, Walter K, Wu X, Zhang L, Alam MD, Anastasi C, Aniebo IC, Bailey DM, Bancarz IR, Banerjee S, Barbour SG, Baybayan PA, Benoit VA, Benson KF, Bevis C, Black PJ, Boodhun A, Brennan JS, Bridgham JA, Brown RC, Brown AA, Buermann DH, Bundu AA, Burrows JC, Carter NP, Castillo N, Chiara ECM, Chang S, Neil Cooley R, Crake NR, Dada OO, Diakoumakos KD, Dominguez-Fernandez B, Earnshaw DJ, Egbujor UC, Elmore DW, Etchin SS, Ewan MR, Fedurco M, Fraser LJ, Fuentes Fajardo KV, Scott Furey W, George D, Gietzen KJ, Goddard CP, Golda GS, Granieri PA, Green DE, Gustafson DL, Hansen NF, Harnish K, Haudenschild CD, Heyer NI, Hims MM, Ho JT, Horgan AM, Hoschler K, Hurwitz S, Ivanov DV, Johnson MQ, James T, Huw Jones TA, Kang GD, Kerelska TH, Kersey AD, Khrebtukova I, Kindwall AP, Kingsbury Z, Kokko-Gonzales PI, Kumar A, Laurent MA, Lawley CT, Lee SE, Lee X, Liao AK, Loch JA, Lok M, Luo S, Mammen RM, Martin JW, McCauley PG, McNitt P, Mehta P, Moon KW, Mullens JW, Newington T, Ning Z, Ling Ng B, Novo SM, O’Neill MJ, Osborne MA, Osnowski A, Ostadan O, Paraschos LL, Pickering L, Pike AC, Chris Pinkard D, Pliskin DP, Podhasky J, Quijano VJ, Raczy C, Rae VH, Rawlings SR, Chiva Rodriguez A, Roe PM, Rogers J, Rogert Bacigalupo MC, Romanov N, Romieu A, Roth RK, Rourke NJ, Ruediger ST, Rusman E, Sanches-Kuiper RM, Schenker MR, Seoane JM, Shaw RJ, Shiver MK, Short SW, Sizto NL, Sluis JP, Smith MA, Ernest Sohna Sohna J, Spence EJ, Stevens K, Sutton N, Szajkowski L, Tregidgo CL, Turcatti G, Vandevondele S, Verhovsky Y, Virk SM, Wakelin S, Walcott GC, Wang J, Worsley GJ, Yan J, Yau L, Zuerlein M, Mullikin JC, Hurles ME, McCooke NJ, West JS, Oaks FL, Lundberg PL, Klenerman D, Durbin R, Smith AJ (2008) Accurate whole human genome sequencing using reversible terminator chemistry. Nature 456(7218):53–59. doi:10.​1038/​nature07517 PubMedCrossRef

go back to reference Blauw HM, Barnes CP, van Vught PW, van Rheenen W, Verheul M, Cuppen E, Veldink JH, van den Berg LH (2012) SMN1 gene duplications are associated with sporadic ALS. Neurology 78(11):776–780. doi:10.1212/WNL.0b013e318249f697 PubMedCrossRef Blauw HM, Barnes CP, van Vught PW, van Rheenen W, Verheul M, Cuppen E, Veldink JH, van den Berg LH (2012) SMN1 gene duplications are associated with sporadic ALS. Neurology 78(11):776–780. doi:10.​1212/​WNL.​0b013e318249f697​ PubMedCrossRef

go back to reference Bohm J, Leshinsky-Silver E, Vassilopoulos S, Le Gras S, Lerman-Sagie T, Ginzberg M, Jost B, Lev D, Laporte J (2012) Samaritan myopathy, an ultimately benign congenital myopathy, is caused by a RYR1 mutation. Acta Neuropathol 124(4):575–581. doi:10.1007/s00401-012-1007-3 PubMedCrossRef Bohm J, Leshinsky-Silver E, Vassilopoulos S, Le Gras S, Lerman-Sagie T, Ginzberg M, Jost B, Lev D, Laporte J (2012) Samaritan myopathy, an ultimately benign congenital myopathy, is caused by a RYR1 mutation. Acta Neuropathol 124(4):575–581. doi:10.​1007/​s00401-012-1007-3 PubMedCrossRef

go back to reference Braslavsky I, Hebert B, Kartalov E, Quake SR (2003) Sequence information can be obtained from single DNA molecules. Proc Natl Acad Sci USA 100(7):3960–3964. doi:10.1073/pnas.0230489100 PubMedCrossRef Braslavsky I, Hebert B, Kartalov E, Quake SR (2003) Sequence information can be obtained from single DNA molecules. Proc Natl Acad Sci USA 100(7):3960–3964. doi:10.​1073/​pnas.​0230489100 PubMedCrossRef

go back to reference Chamberlain JS, Gibbs RA, Ranier JE, Nguyen PN, Caskey CT (1988) Deletion screening of the Duchenne muscular dystrophy locus via multiplex DNA amplification. Nucleic Acids Res 16(23):11141–11156PubMedCrossRef Chamberlain JS, Gibbs RA, Ranier JE, Nguyen PN, Caskey CT (1988) Deletion screening of the Duchenne muscular dystrophy locus via multiplex DNA amplification. Nucleic Acids Res 16(23):11141–11156PubMedCrossRef

go back to reference Chen YZ, Bennett CL, Huynh HM, Blair IP, Puls I, Irobi J, Dierick I, Abel A, Kennerson ML, Rabin BA, Nicholson GA, Auer-Grumbach M, Wagner K, De Jonghe P, Griffin JW, Fischbeck KH, Timmerman V, Cornblath DR, Chance PF (2004) DNA/RNA helicase gene mutations in a form of juvenile amyotrophic lateral sclerosis (ALS4). Am J Hum Genet 74(6):1128–1135. doi:10.1086/421054 PubMedCrossRef Chen YZ, Bennett CL, Huynh HM, Blair IP, Puls I, Irobi J, Dierick I, Abel A, Kennerson ML, Rabin BA, Nicholson GA, Auer-Grumbach M, Wagner K, De Jonghe P, Griffin JW, Fischbeck KH, Timmerman V, Cornblath DR, Chance PF (2004) DNA/RNA helicase gene mutations in a form of juvenile amyotrophic lateral sclerosis (ALS4). Am J Hum Genet 74(6):1128–1135. doi:10.​1086/​421054 PubMedCrossRef

go back to reference Choi M, Scholl UI, Ji W, Liu T, Tikhonova IR, Zumbo P, Nayir A, Bakkaloglu A, Ozen S, Sanjad S, Nelson-Williams C, Farhi A, Mane S, Lifton RP (2009) Genetic diagnosis by whole exome capture and massively parallel DNA sequencing. Proc Natl Acad Sci USA 106(45):19096–19101. doi:10.1073/pnas.0910672106 PubMedCrossRef Choi M, Scholl UI, Ji W, Liu T, Tikhonova IR, Zumbo P, Nayir A, Bakkaloglu A, Ozen S, Sanjad S, Nelson-Williams C, Farhi A, Mane S, Lifton RP (2009) Genetic diagnosis by whole exome capture and massively parallel DNA sequencing. Proc Natl Acad Sci USA 106(45):19096–19101. doi:10.​1073/​pnas.​0910672106 PubMedCrossRef

go back to reference Christenhusz GM, Devriendt K, Dierickx K (2012) To tell or not to tell? A systematic review of ethical reflections on incidental findings arising in genetics contexts. Eur J Hum Genet. doi:10.1038/ejhg.2012.130 PubMed Christenhusz GM, Devriendt K, Dierickx K (2012) To tell or not to tell? A systematic review of ethical reflections on incidental findings arising in genetics contexts. Eur J Hum Genet. doi:10.​1038/​ejhg.​2012.​130 PubMed

go back to reference Clark MJ, Chen R, Lam HY, Karczewski KJ, Euskirchen G, Butte AJ, Snyder M (2011) Performance comparison of exome DNA sequencing technologies. Nat Biotechnol 29(10):908–914. doi:10.1038/nbt.1975 PubMedCrossRef Clark MJ, Chen R, Lam HY, Karczewski KJ, Euskirchen G, Butte AJ, Snyder M (2011) Performance comparison of exome DNA sequencing technologies. Nat Biotechnol 29(10):908–914. doi:10.​1038/​nbt.​1975 PubMedCrossRef

go back to reference Craig DW, Pearson JV, Szelinger S, Sekar A, Redman M, Corneveaux JJ, Pawlowski TL, Laub T, Nunn G, Stephan DA, Homer N, Huentelman MJ (2008) Identification of genetic variants using bar-coded multiplexed sequencing. Nat Methods 5(10):887–893. doi:10.1038/nmeth.1251 PubMedCrossRef Craig DW, Pearson JV, Szelinger S, Sekar A, Redman M, Corneveaux JJ, Pawlowski TL, Laub T, Nunn G, Stephan DA, Homer N, Huentelman MJ (2008) Identification of genetic variants using bar-coded multiplexed sequencing. Nat Methods 5(10):887–893. doi:10.​1038/​nmeth.​1251 PubMedCrossRef

go back to reference DeJesus-Hernandez M, Mackenzie IR, Boeve BF, Boxer AL, Baker M, Rutherford NJ, Nicholson AM, Finch NA, Flynn H, Adamson J, Kouri N, Wojtas A, Sengdy P, Hsiung GY, Karydas A, Seeley WW, Josephs KA, Coppola G, Geschwind DH, Wszolek ZK, Feldman H, Knopman DS, Petersen RC, Miller BL, Dickson DW, Boylan KB, Graff-Radford NR, Rademakers R (2011) Expanded GGGGCC hexanucleotide repeat in noncoding region of C9ORF72 causes chromosome 9p-linked FTD and ALS. Neuron 72(2):245–256. doi:10.1016/j.neuron.2011.09.011 PubMedCrossRef DeJesus-Hernandez M, Mackenzie IR, Boeve BF, Boxer AL, Baker M, Rutherford NJ, Nicholson AM, Finch NA, Flynn H, Adamson J, Kouri N, Wojtas A, Sengdy P, Hsiung GY, Karydas A, Seeley WW, Josephs KA, Coppola G, Geschwind DH, Wszolek ZK, Feldman H, Knopman DS, Petersen RC, Miller BL, Dickson DW, Boylan KB, Graff-Radford NR, Rademakers R (2011) Expanded GGGGCC hexanucleotide repeat in noncoding region of C9ORF72 causes chromosome 9p-linked FTD and ALS. Neuron 72(2):245–256. doi:10.​1016/​j.​neuron.​2011.​09.​011 PubMedCrossRef

go back to reference Desai AN, Jere A (2012) Next-generation sequencing: ready for the clinics? Clin Genet 81(6):503–510. doi:10.1111/j.1399-0004.2012.01865.x PubMedCrossRef Desai AN, Jere A (2012) Next-generation sequencing: ready for the clinics? Clin Genet 81(6):503–510. doi:10.​1111/​j.​1399-0004.​2012.​01865.​x PubMedCrossRef

go back to reference Dias C, Sincan M, Cherukuri PF, Rupps R, Huang Y, Briemberg H, Selby K, Mullikin JC, Markello TC, Adams DR, Gahl WA, Boerkoel CF (2012) An analysis of exome sequencing for diagnostic testing of the genes associated with muscle disease and spastic paraplegia. Hum Mutat 33(4):614–626. doi:10.1002/humu.22032 PubMedCrossRef Dias C, Sincan M, Cherukuri PF, Rupps R, Huang Y, Briemberg H, Selby K, Mullikin JC, Markello TC, Adams DR, Gahl WA, Boerkoel CF (2012) An analysis of exome sequencing for diagnostic testing of the genes associated with muscle disease and spastic paraplegia. Hum Mutat 33(4):614–626. doi:10.​1002/​humu.​22032 PubMedCrossRef

go back to reference Donner K, Sandbacka M, Lehtokari VL, Wallgren-Pettersson C, Pelin K (2004) Complete genomic structure of the human nebulin gene and identification of alternatively spliced transcripts. Eur J Hum Genet 12(9):744–751. doi:10.1038/sj.ejhg.5201242 PubMedCrossRef Donner K, Sandbacka M, Lehtokari VL, Wallgren-Pettersson C, Pelin K (2004) Complete genomic structure of the human nebulin gene and identification of alternatively spliced transcripts. Eur J Hum Genet 12(9):744–751. doi:10.​1038/​sj.​ejhg.​5201242 PubMedCrossRef

go back to reference Drmanac R, Sparks AB, Callow MJ, Halpern AL, Burns NL, Kermani BG, Carnevali P, Nazarenko I, Nilsen GB, Yeung G, Dahl F, Fernandez A, Staker B, Pant KP, Baccash J, Borcherding AP, Brownley A, Cedeno R, Chen L, Chernikoff D, Cheung A, Chirita R, Curson B, Ebert JC, Hacker CR, Hartlage R, Hauser B, Huang S, Jiang Y, Karpinchyk V, Koenig M, Kong C, Landers T, Le C, Liu J, McBride CE, Morenzoni M, Morey RE, Mutch K, Perazich H, Perry K, Peters BA, Peterson J, Pethiyagoda CL, Pothuraju K, Richter C, Rosenbaum AM, Roy S, Shafto J, Sharanhovich U, Shannon KW, Sheppy CG, Sun M, Thakuria JV, Tran A, Vu D, Zaranek AW, Wu X, Drmanac S, Oliphant AR, Banyai WC, Martin B, Ballinger DG, Church GM, Reid CA (2010) Human genome sequencing using unchained base reads on self-assembling DNA nanoarrays. Science 327(5961):78–81. doi:10.1126/science.1181498 PubMedCrossRef Drmanac R, Sparks AB, Callow MJ, Halpern AL, Burns NL, Kermani BG, Carnevali P, Nazarenko I, Nilsen GB, Yeung G, Dahl F, Fernandez A, Staker B, Pant KP, Baccash J, Borcherding AP, Brownley A, Cedeno R, Chen L, Chernikoff D, Cheung A, Chirita R, Curson B, Ebert JC, Hacker CR, Hartlage R, Hauser B, Huang S, Jiang Y, Karpinchyk V, Koenig M, Kong C, Landers T, Le C, Liu J, McBride CE, Morenzoni M, Morey RE, Mutch K, Perazich H, Perry K, Peters BA, Peterson J, Pethiyagoda CL, Pothuraju K, Richter C, Rosenbaum AM, Roy S, Shafto J, Sharanhovich U, Shannon KW, Sheppy CG, Sun M, Thakuria JV, Tran A, Vu D, Zaranek AW, Wu X, Drmanac S, Oliphant AR, Banyai WC, Martin B, Ballinger DG, Church GM, Reid CA (2010) Human genome sequencing using unchained base reads on self-assembling DNA nanoarrays. Science 327(5961):78–81. doi:10.​1126/​science.​1181498 PubMedCrossRef

go back to reference Edvardson S, Cinnamon Y, Jalas C, Shaag A, Maayan C, Axelrod FB, Elpeleg O (2012) Hereditary sensory autonomic neuropathy caused by a mutation in dystonin. Ann Neurol 71(4):569–572. doi:10.1002/ana.23524 PubMedCrossRef Edvardson S, Cinnamon Y, Jalas C, Shaag A, Maayan C, Axelrod FB, Elpeleg O (2012) Hereditary sensory autonomic neuropathy caused by a mutation in dystonin. Ann Neurol 71(4):569–572. doi:10.​1002/​ana.​23524 PubMedCrossRef

go back to reference Emery AE (1991) Population frequencies of inherited neuromuscular diseases–a world survey. Neuromuscul Disord 1(1):19–29PubMedCrossRef Emery AE (1991) Population frequencies of inherited neuromuscular diseases–a world survey. Neuromuscul Disord 1(1):19–29PubMedCrossRef

go back to reference Fan HC, Gu W, Wang J, Blumenfeld YJ, El-Sayed YY, Quake SR (2012) Non-invasive prenatal measurement of the fetal genome. Nature 487(7407):320–324. doi:10.1038/nature11251 PubMedCrossRef Fan HC, Gu W, Wang J, Blumenfeld YJ, El-Sayed YY, Quake SR (2012) Non-invasive prenatal measurement of the fetal genome. Nature 487(7407):320–324. doi:10.​1038/​nature11251 PubMedCrossRef

go back to reference Fischer M, Snajder R, Pabinger S, Dander A, Schossig A, Zschocke J, Trajanoski Z, Stocker G (2012) SIMPLEX: cloud-enabled pipeline for the comprehensive analysis of exome sequencing data. PLoS ONE 7(8):e41948. doi:10.1371/journal.pone.0041948 PubMedCrossRef Fischer M, Snajder R, Pabinger S, Dander A, Schossig A, Zschocke J, Trajanoski Z, Stocker G (2012) SIMPLEX: cloud-enabled pipeline for the comprehensive analysis of exome sequencing data. PLoS ONE 7(8):e41948. doi:10.​1371/​journal.​pone.​0041948 PubMedCrossRef

go back to reference Gazzerro E, Bonetto A, Minetti C (2011) Caveolinopathies: translational implications of caveolin-3 in skeletal and cardiac muscle disorders. Handb Clin Neurol 101:135–142. doi:10.1016/B978-0-08-045031-5.00010-4 PubMedCrossRef Gazzerro E, Bonetto A, Minetti C (2011) Caveolinopathies: translational implications of caveolin-3 in skeletal and cardiac muscle disorders. Handb Clin Neurol 101:135–142. doi:10.​1016/​B978-0-08-045031-5.​00010-4 PubMedCrossRef

go back to reference Gilissen C, Hoischen A, Brunner HG, Veltman JA (2012) Disease gene identification strategies for exome sequencing. Eur J Hum Genet 20(5):490–497. doi:10.1038/ejhg.2011.258 PubMedCrossRef Gilissen C, Hoischen A, Brunner HG, Veltman JA (2012) Disease gene identification strategies for exome sequencing. Eur J Hum Genet 20(5):490–497. doi:10.​1038/​ejhg.​2011.​258 PubMedCrossRef

go back to reference Gitcho MA, Bigio EH, Mishra M, Johnson N, Weintraub S, Mesulam M, Rademakers R, Chakraverty S, Cruchaga C, Morris JC, Goate AM, Cairns NJ (2009) TARDBP 3′-UTR variant in autopsy-confirmed frontotemporal lobar degeneration with TDP-43 proteinopathy. Acta Neuropathol 118(5):633–645. doi:10.1007/s00401-009-0571-7 PubMedCrossRef Gitcho MA, Bigio EH, Mishra M, Johnson N, Weintraub S, Mesulam M, Rademakers R, Chakraverty S, Cruchaga C, Morris JC, Goate AM, Cairns NJ (2009) TARDBP 3′-UTR variant in autopsy-confirmed frontotemporal lobar degeneration with TDP-43 proteinopathy. Acta Neuropathol 118(5):633–645. doi:10.​1007/​s00401-009-0571-7 PubMedCrossRef

go back to reference Godard B, Kaariainen H, Kristoffersson U, Tranebjaerg L, Coviello D, Ayme S (2003) Provision of genetic services in Europe: current practices and issues. Eur J Hum Genet 11(Suppl 2):S13–S48. doi:10.1038/sj.ejhg.5201111 PubMedCrossRef Godard B, Kaariainen H, Kristoffersson U, Tranebjaerg L, Coviello D, Ayme S (2003) Provision of genetic services in Europe: current practices and issues. Eur J Hum Genet 11(Suppl 2):S13–S48. doi:10.​1038/​sj.​ejhg.​5201111 PubMedCrossRef

go back to reference Goto K, Nishino I, Hayashi YK (2006) Rapid and accurate diagnosis of facioscapulohumeral muscular dystrophy. Neuromuscul Disord 16(4):256–261. doi:10.1016/j.nmd.2006.01.008 PubMedCrossRef Goto K, Nishino I, Hayashi YK (2006) Rapid and accurate diagnosis of facioscapulohumeral muscular dystrophy. Neuromuscul Disord 16(4):256–261. doi:10.​1016/​j.​nmd.​2006.​01.​008 PubMedCrossRef

go back to reference Greenway MJ, Alexander MD, Ennis S, Traynor BJ, Corr B, Frost E, Green A, Hardiman O (2004) A novel candidate region for ALS on chromosome 14q11.2. Neurology 63(10):1936–1938. pii:63/10/1936 Greenway MJ, Alexander MD, Ennis S, Traynor BJ, Corr B, Frost E, Green A, Hardiman O (2004) A novel candidate region for ALS on chromosome 14q11.2. Neurology 63(10):1936–1938. pii:63/10/1936

go back to reference Guis S, Figarella-Branger D, Monnier N, Bendahan D, Kozak-Ribbens G, Mattei JP, Lunardi J, Cozzone PJ, Pellissier JF (2004) Multiminicore disease in a family susceptible to malignant hyperthermia: histology, in vitro contracture tests, and genetic characterization. Arch Neurol 61(1):106–113. doi:10.1001/archneur.61.1.106 PubMedCrossRef Guis S, Figarella-Branger D, Monnier N, Bendahan D, Kozak-Ribbens G, Mattei JP, Lunardi J, Cozzone PJ, Pellissier JF (2004) Multiminicore disease in a family susceptible to malignant hyperthermia: histology, in vitro contracture tests, and genetic characterization. Arch Neurol 61(1):106–113. doi:10.​1001/​archneur.​61.​1.​106 PubMedCrossRef

go back to reference Hadano S, Hand CK, Osuga H, Yanagisawa Y, Otomo A, Devon RS, Miyamoto N, Showguchi-Miyata J, Okada Y, Singaraja R, Figlewicz DA, Kwiatkowski T, Hosler BA, Sagie T, Skaug J, Nasir J, Brown RH Jr, Scherer SW, Rouleau GA, Hayden MR, Ikeda JE (2001) A gene encoding a putative GTPase regulator is mutated in familial amyotrophic lateral sclerosis 2. Nat Genet 29(2):166–173. doi:10.1038/ng1001-166 PubMedCrossRef Hadano S, Hand CK, Osuga H, Yanagisawa Y, Otomo A, Devon RS, Miyamoto N, Showguchi-Miyata J, Okada Y, Singaraja R, Figlewicz DA, Kwiatkowski T, Hosler BA, Sagie T, Skaug J, Nasir J, Brown RH Jr, Scherer SW, Rouleau GA, Hayden MR, Ikeda JE (2001) A gene encoding a putative GTPase regulator is mutated in familial amyotrophic lateral sclerosis 2. Nat Genet 29(2):166–173. doi:10.​1038/​ng1001-166 PubMedCrossRef

go back to reference Harms MB, Ori-McKenney KM, Scoto M, Tuck EP, Bell S, Ma D, Masi S, Allred P, Al-Lozi M, Reilly MM, Miller LJ, Jani-Acsadi A, Pestronk A, Shy ME, Muntoni F, Vallee RB, Baloh RH (2012) Mutations in the tail domain of DYNC1H1 cause dominant spinal muscular atrophy. Neurology 78(22):1714–1720. doi:10.1212/WNL.0b013e3182556c05 PubMedCrossRef Harms MB, Ori-McKenney KM, Scoto M, Tuck EP, Bell S, Ma D, Masi S, Allred P, Al-Lozi M, Reilly MM, Miller LJ, Jani-Acsadi A, Pestronk A, Shy ME, Muntoni F, Vallee RB, Baloh RH (2012) Mutations in the tail domain of DYNC1H1 cause dominant spinal muscular atrophy. Neurology 78(22):1714–1720. doi:10.​1212/​WNL.​0b013e3182556c05​ PubMedCrossRef

go back to reference Harms MB, Sommerville RB, Allred P, Bell S, Ma D, Cooper P, Lopate G, Pestronk A, Weihl CC, Baloh RH (2012) Exome sequencing reveals DNAJB6 mutations in dominantly-inherited myopathy. Ann Neurol 71(3):407–416. doi:10.1002/ana.22683 PubMedCrossRef Harms MB, Sommerville RB, Allred P, Bell S, Ma D, Cooper P, Lopate G, Pestronk A, Weihl CC, Baloh RH (2012) Exome sequencing reveals DNAJB6 mutations in dominantly-inherited myopathy. Ann Neurol 71(3):407–416. doi:10.​1002/​ana.​22683 PubMedCrossRef

go back to reference Hastings R, de Wert G, Fowler B, Krawczak M, Vermeulen E, Bakker E, Borry P, Dondorp W, Nijsingh N, Barton D, Schmidtke J, van El CG, Vermeesch J, Stol Y, Carmen Howard H, Cornel MC (2012) The changing landscape of genetic testing and its impact on clinical and laboratory services and research in Europe. Eur J Hum Genet 20(9):911–916. doi:10.1038/ejhg.2012.56 PubMedCrossRef Hastings R, de Wert G, Fowler B, Krawczak M, Vermeulen E, Bakker E, Borry P, Dondorp W, Nijsingh N, Barton D, Schmidtke J, van El CG, Vermeesch J, Stol Y, Carmen Howard H, Cornel MC (2012) The changing landscape of genetic testing and its impact on clinical and laboratory services and research in Europe. Eur J Hum Genet 20(9):911–916. doi:10.​1038/​ejhg.​2012.​56 PubMedCrossRef

go back to reference Hayward C, Colville S, Swingler RJ, Brock DJ (1999) Molecular genetic analysis of the APEX nuclease gene in amyotrophic lateral sclerosis. Neurology 52(9):1899–1901PubMedCrossRef Hayward C, Colville S, Swingler RJ, Brock DJ (1999) Molecular genetic analysis of the APEX nuclease gene in amyotrophic lateral sclerosis. Neurology 52(9):1899–1901PubMedCrossRef

go back to reference Herdewyn S, Zhao H, Moisse M, Race V, Matthijs G, Reumers J, Kusters B, Schelhaas HJ, van den Berg LH, Goris A, Robberecht W, Lambrechts D, Van Damme P (2012) Whole-genome sequencing reveals a coding non-pathogenic variant tagging a non-coding pathogenic hexanucleotide repeat expansion in C9orf72 as cause of amyotrophic lateral sclerosis. Hum Mol Genet 21(11):2412–2419. doi:10.1093/hmg/dds055 PubMedCrossRef Herdewyn S, Zhao H, Moisse M, Race V, Matthijs G, Reumers J, Kusters B, Schelhaas HJ, van den Berg LH, Goris A, Robberecht W, Lambrechts D, Van Damme P (2012) Whole-genome sequencing reveals a coding non-pathogenic variant tagging a non-coding pathogenic hexanucleotide repeat expansion in C9orf72 as cause of amyotrophic lateral sclerosis. Hum Mol Genet 21(11):2412–2419. doi:10.​1093/​hmg/​dds055 PubMedCrossRef

go back to reference Hill M (2003) The neuromuscular junction disorders. J Neurol Neurosurg Psychiatry 74(Suppl 2):ii32–ii37 Hill M (2003) The neuromuscular junction disorders. J Neurol Neurosurg Psychiatry 74(Suppl 2):ii32–ii37

go back to reference Hoischen A, Gilissen C, Arts P, Wieskamp N, van der Vliet W, Vermeer S, Steehouwer M, de Vries P, Meijer R, Seiqueros J, Knoers NV, Buckley MF, Scheffer H, Veltman JA (2010) Massively parallel sequencing of ataxia genes after array-based enrichment. Hum Mutat 31(4):494–499. doi:10.1002/humu.21221 PubMedCrossRef Hoischen A, Gilissen C, Arts P, Wieskamp N, van der Vliet W, Vermeer S, Steehouwer M, de Vries P, Meijer R, Seiqueros J, Knoers NV, Buckley MF, Scheffer H, Veltman JA (2010) Massively parallel sequencing of ataxia genes after array-based enrichment. Hum Mutat 31(4):494–499. doi:10.​1002/​humu.​21221 PubMedCrossRef

go back to reference Jimenez-Escrig A, Gobernado I, Garcia-Villanueva M, Sanchez-Herranz A (2012) Autosomal recessive Emery-Dreifuss muscular dystrophy caused by a novel mutation (R225Q) in the lamin A/C gene identified by exome sequencing. Muscle Nerve 45(4):605–610. doi:10.1002/mus.22324 PubMedCrossRef Jimenez-Escrig A, Gobernado I, Garcia-Villanueva M, Sanchez-Herranz A (2012) Autosomal recessive Emery-Dreifuss muscular dystrophy caused by a novel mutation (R225Q) in the lamin A/C gene identified by exome sequencing. Muscle Nerve 45(4):605–610. doi:10.​1002/​mus.​22324 PubMedCrossRef

go back to reference Kaplan JC (2011) The 2012 version of the gene table of monogenic neuromuscular disorders. Neuromuscul Disord 21(12):833–861PubMedCrossRef Kaplan JC (2011) The 2012 version of the gene table of monogenic neuromuscular disorders. Neuromuscul Disord 21(12):833–861PubMedCrossRef

go back to reference Kondo E, Nishimura T, Kosho T, Inaba Y, Mitsuhashi S, Ishida T, Baba A, Koike K, Nishino I, Nonaka I, Furukawa T, Saito K (2012) Recessive RYR1 mutations in a patient with severe congenital nemaline myopathy with ophthalomoplegia identified through massively parallel sequencing. Am J Med Genet A 158A(4):772–778. doi:10.1002/ajmg.a.35243 PubMedCrossRef Kondo E, Nishimura T, Kosho T, Inaba Y, Mitsuhashi S, Ishida T, Baba A, Koike K, Nishino I, Nonaka I, Furukawa T, Saito K (2012) Recessive RYR1 mutations in a patient with severe congenital nemaline myopathy with ophthalomoplegia identified through massively parallel sequencing. Am J Med Genet A 158A(4):772–778. doi:10.​1002/​ajmg.​a.​35243 PubMedCrossRef

go back to reference Krysa W, Rajkiewicz M, Sulek A (2012) Rapid detection of large expansions in progressive myoclonus epilepsy type 1, myotonic dystrophy type 2 and spinocerebellar ataxia type 8. Neurol Neurochir Pol 46(2):113–120. doi:18490 PubMed Krysa W, Rajkiewicz M, Sulek A (2012) Rapid detection of large expansions in progressive myoclonus epilepsy type 1, myotonic dystrophy type 2 and spinocerebellar ataxia type 8. Neurol Neurochir Pol 46(2):113–120. doi:18490 PubMed

go back to reference Ku CS, Cooper DN, Polychronakos C, Naidoo N, Wu M, Soong R (2012) Exome sequencing: dual role as a discovery and diagnostic tool. Ann Neurol 71(1):5–14. doi:10.1002/ana.22647 PubMedCrossRef Ku CS, Cooper DN, Polychronakos C, Naidoo N, Wu M, Soong R (2012) Exome sequencing: dual role as a discovery and diagnostic tool. Ann Neurol 71(1):5–14. doi:10.​1002/​ana.​22647 PubMedCrossRef

go back to reference Kwiatkowski TJ Jr, Bosco DA, Leclerc AL, Tamrazian E, Vanderburg CR, Russ C, Davis A, Gilchrist J, Kasarskis EJ, Munsat T, Valdmanis P, Rouleau GA, Hosler BA, Cortelli P, de Jong PJ, Yoshinaga Y, Haines JL, Pericak-Vance MA, Yan J, Ticozzi N, Siddique T, McKenna-Yasek D, Sapp PC, Horvitz HR, Landers JE, Brown RH Jr (2009) Mutations in the FUS/TLS gene on chromosome 16 cause familial amyotrophic lateral sclerosis. Science 323(5918):1205–1208. doi:10.1126/science.1166066 PubMedCrossRef Kwiatkowski TJ Jr, Bosco DA, Leclerc AL, Tamrazian E, Vanderburg CR, Russ C, Davis A, Gilchrist J, Kasarskis EJ, Munsat T, Valdmanis P, Rouleau GA, Hosler BA, Cortelli P, de Jong PJ, Yoshinaga Y, Haines JL, Pericak-Vance MA, Yan J, Ticozzi N, Siddique T, McKenna-Yasek D, Sapp PC, Horvitz HR, Landers JE, Brown RH Jr (2009) Mutations in the FUS/TLS gene on chromosome 16 cause familial amyotrophic lateral sclerosis. Science 323(5918):1205–1208. doi:10.​1126/​science.​1166066 PubMedCrossRef

go back to reference Laing NG (2012) Genetics of neuromuscular disorders. Crit Rev Clin Lab Sci 49(2):33–48. doi:10.3109/10408363.2012.658906 PubMedCrossRef Laing NG (2012) Genetics of neuromuscular disorders. Crit Rev Clin Lab Sci 49(2):33–48. doi:10.​3109/​10408363.​2012.​658906 PubMedCrossRef

go back to reference Li H, Durbin R (2009) Fast and accurate short read alignment with Burrows-Wheeler transform. Bioinformatics 25(14):1754–1760. doi:10.1093/bioinformatics/btp324 PubMedCrossRef Li H, Durbin R (2009) Fast and accurate short read alignment with Burrows-Wheeler transform. Bioinformatics 25(14):1754–1760. doi:10.​1093/​bioinformatics/​btp324 PubMedCrossRef

go back to reference Li H, Handsaker B, Wysoker A, Fennell T, Ruan J, Homer N, Marth G, Abecasis G, Durbin R (2009) The sequence alignment/map format and SAMtools. Bioinformatics 25(16):2078–2079. doi:10.1093/bioinformatics/btp352 PubMedCrossRef Li H, Handsaker B, Wysoker A, Fennell T, Ruan J, Homer N, Marth G, Abecasis G, Durbin R (2009) The sequence alignment/map format and SAMtools. Bioinformatics 25(16):2078–2079. doi:10.​1093/​bioinformatics/​btp352 PubMedCrossRef

go back to reference Li Y, Vinckenbosch N, Tian G, Huerta-Sanchez E, Jiang T, Jiang H, Albrechtsen A, Andersen G, Cao H, Korneliussen T, Grarup N, Guo Y, Hellman I, Jin X, Li Q, Liu J, Liu X, Sparso T, Tang M, Wu H, Wu R, Yu C, Zheng H, Astrup A, Bolund L, Holmkvist J, Jorgensen T, Kristiansen K, Schmitz O, Schwartz TW, Zhang X, Li R, Yang H, Wang J, Hansen T, Pedersen O, Nielsen R (2010) Resequencing of 200 human exomes identifies an excess of low-frequency non-synonymous coding variants. Nat Genet 42(11):969–972. doi:10.1038/ng.680 PubMedCrossRef Li Y, Vinckenbosch N, Tian G, Huerta-Sanchez E, Jiang T, Jiang H, Albrechtsen A, Andersen G, Cao H, Korneliussen T, Grarup N, Guo Y, Hellman I, Jin X, Li Q, Liu J, Liu X, Sparso T, Tang M, Wu H, Wu R, Yu C, Zheng H, Astrup A, Bolund L, Holmkvist J, Jorgensen T, Kristiansen K, Schmitz O, Schwartz TW, Zhang X, Li R, Yang H, Wang J, Hansen T, Pedersen O, Nielsen R (2010) Resequencing of 200 human exomes identifies an excess of low-frequency non-synonymous coding variants. Nat Genet 42(11):969–972. doi:10.​1038/​ng.​680 PubMedCrossRef

go back to reference Lim BC, Lee S, Shin JY, Kim JI, Hwang H, Kim KJ, Hwang YS, Seo JS, Chae JH (2011) Genetic diagnosis of Duchenne and Becker muscular dystrophy using next-generation sequencing technology: comprehensive mutational search in a single platform. J Med Genet 48(11):731–736. doi:10.1136/jmedgenet-2011-100133 PubMedCrossRef Lim BC, Lee S, Shin JY, Kim JI, Hwang H, Kim KJ, Hwang YS, Seo JS, Chae JH (2011) Genetic diagnosis of Duchenne and Becker muscular dystrophy using next-generation sequencing technology: comprehensive mutational search in a single platform. J Med Genet 48(11):731–736. doi:10.​1136/​jmedgenet-2011-100133 PubMedCrossRef

go back to reference Liu L, Li Y, Li S, Hu N, He Y, Pong R, Lin D, Lu L, Law M (2012) Comparison of next-generation sequencing systems. J Biomed Biotechnol 2012:251364. doi:10.1155/2012/251364 PubMed Liu L, Li Y, Li S, Hu N, He Y, Pong R, Lin D, Lu L, Law M (2012) Comparison of next-generation sequencing systems. J Biomed Biotechnol 2012:251364. doi:10.​1155/​2012/​251364 PubMed

go back to reference Liu MJ, Xie M, Mao J, Li H, Yan WH, Chen Y (2012) Application of next-generation sequencing technology for genetic diagnosis of Duchenne muscular dystrophy. Zhonghua Yi Xue Yi Chuan Xue Za Zhi 29(3):249–254. doi:10.3760/cma.j.issn.1003-9406.2012.03.001 PubMed Liu MJ, Xie M, Mao J, Li H, Yan WH, Chen Y (2012) Application of next-generation sequencing technology for genetic diagnosis of Duchenne muscular dystrophy. Zhonghua Yi Xue Yi Chuan Xue Za Zhi 29(3):249–254. doi:10.​3760/​cma.​j.​issn.​1003-9406.​2012.​03.​001 PubMed

go back to reference Lo YM, Chiu RW (2012) Genomic analysis of fetal nucleic acids in maternal blood. Annu Rev Genomics Hum Genet. doi:10.1146/annurev-genom-090711-163806 PubMed Lo YM, Chiu RW (2012) Genomic analysis of fetal nucleic acids in maternal blood. Annu Rev Genomics Hum Genet. doi:10.​1146/​annurev-genom-090711-163806 PubMed

go back to reference Loman NJ, Misra RV, Dallman TJ, Constantinidou C, Gharbia SE, Wain J, Pallen MJ (2012) Performance comparison of benchtop high-throughput sequencing platforms. Nat Biotechnol 30(5):434–439. doi:10.1038/nbt.2198 PubMedCrossRef Loman NJ, Misra RV, Dallman TJ, Constantinidou C, Gharbia SE, Wain J, Pallen MJ (2012) Performance comparison of benchtop high-throughput sequencing platforms. Nat Biotechnol 30(5):434–439. doi:10.​1038/​nbt.​2198 PubMedCrossRef

go back to reference Lupski JR, Reid JG, Gonzaga-Jauregui C, Rio Deiros D, Chen DC, Nazareth L, Bainbridge M, Dinh H, Jing C, Wheeler DA, McGuire AL, Zhang F, Stankiewicz P, Halperin JJ, Yang C, Gehman C, Guo D, Irikat RK, Tom W, Fantin NJ, Muzny DM, Gibbs RA (2010) Whole-genome sequencing in a patient with Charcot–Marie–Tooth neuropathy. N Engl J Med 362(13):1181–1191. doi:10.1056/NEJMoa0908094 PubMedCrossRef Lupski JR, Reid JG, Gonzaga-Jauregui C, Rio Deiros D, Chen DC, Nazareth L, Bainbridge M, Dinh H, Jing C, Wheeler DA, McGuire AL, Zhang F, Stankiewicz P, Halperin JJ, Yang C, Gehman C, Guo D, Irikat RK, Tom W, Fantin NJ, Muzny DM, Gibbs RA (2010) Whole-genome sequencing in a patient with Charcot–Marie–Tooth neuropathy. N Engl J Med 362(13):1181–1191. doi:10.​1056/​NEJMoa0908094 PubMedCrossRef

go back to reference Lynch PJ, Krivosic-Horber R, Reyford H, Monnier N, Quane K, Adnet P, Haudecoeur G, Krivosic I, McCarthy T, Lunardi J (1997) Identification of heterozygous and homozygous individuals with the novel RYR1 mutation Cys35Arg in a large kindred. Anesthesiology 86(3):620–626PubMedCrossRef Lynch PJ, Krivosic-Horber R, Reyford H, Monnier N, Quane K, Adnet P, Haudecoeur G, Krivosic I, McCarthy T, Lunardi J (1997) Identification of heterozygous and homozygous individuals with the novel RYR1 mutation Cys35Arg in a large kindred. Anesthesiology 86(3):620–626PubMedCrossRef

go back to reference Mamanova L, Coffey AJ, Scott CE, Kozarewa I, Turner EH, Kumar A, Howard E, Shendure J, Turner DJ (2010) Target-enrichment strategies for next-generation sequencing. Nat Methods 7(2):111–118. doi:10.1038/nmeth.1419 PubMedCrossRef Mamanova L, Coffey AJ, Scott CE, Kozarewa I, Turner EH, Kumar A, Howard E, Shendure J, Turner DJ (2010) Target-enrichment strategies for next-generation sequencing. Nat Methods 7(2):111–118. doi:10.​1038/​nmeth.​1419 PubMedCrossRef

go back to reference Metzker ML (2010) Sequencing technologies - the next generation. Nat Rev Genet 11(1):31–46. doi:10.1038/nrg2626 PubMedCrossRef Metzker ML (2010) Sequencing technologies - the next generation. Nat Rev Genet 11(1):31–46. doi:10.​1038/​nrg2626 PubMedCrossRef

go back to reference Montenegro G, Powell E, Huang J, Speziani F, Edwards YJ, Beecham G, Hulme W, Siskind C, Vance J, Shy M, Zuchner S (2011) Exome sequencing allows for rapid gene identification in a Charcot–Marie–Tooth family. Ann Neurol 69(3):464–470. doi:10.1002/ana.22235 PubMedCrossRef Montenegro G, Powell E, Huang J, Speziani F, Edwards YJ, Beecham G, Hulme W, Siskind C, Vance J, Shy M, Zuchner S (2011) Exome sequencing allows for rapid gene identification in a Charcot–Marie–Tooth family. Ann Neurol 69(3):464–470. doi:10.​1002/​ana.​22235 PubMedCrossRef

go back to reference Muntoni F, Torelli S, Ferlini A (2003) Dystrophin and mutations: one gene, several proteins, multiple phenotypes. Lancet Neurol 2(12):731–740 pii:S1474442203005854PubMedCrossRef Muntoni F, Torelli S, Ferlini A (2003) Dystrophin and mutations: one gene, several proteins, multiple phenotypes. Lancet Neurol 2(12):731–740 pii:S1474442203005854PubMedCrossRef

go back to reference Nance JR, Dowling JJ, Gibbs EM, Bonnemann CG (2012) Congenital myopathies: an update. Curr Neurol Neurosci Rep 12(2):165–174. doi:10.1007/s11910-012-0255-x PubMedCrossRef Nance JR, Dowling JJ, Gibbs EM, Bonnemann CG (2012) Congenital myopathies: an update. Curr Neurol Neurosci Rep 12(2):165–174. doi:10.​1007/​s11910-012-0255-x PubMedCrossRef

go back to reference Ng PC, Henikoff S (2003) SIFT: predicting amino acid changes that affect protein function. Nucleic Acids Res 31(13):3812–3814PubMedCrossRef Ng PC, Henikoff S (2003) SIFT: predicting amino acid changes that affect protein function. Nucleic Acids Res 31(13):3812–3814PubMedCrossRef

go back to reference Ng SB, Buckingham KJ, Lee C, Bigham AW, Tabor HK, Dent KM, Huff CD, Shannon PT, Jabs EW, Nickerson DA, Shendure J, Bamshad MJ (2010) Exome sequencing identifies the cause of a Mendelian disorder. Nat Genet 42(1):30–35. doi:10.1038/ng.499 PubMedCrossRef Ng SB, Buckingham KJ, Lee C, Bigham AW, Tabor HK, Dent KM, Huff CD, Shannon PT, Jabs EW, Nickerson DA, Shendure J, Bamshad MJ (2010) Exome sequencing identifies the cause of a Mendelian disorder. Nat Genet 42(1):30–35. doi:10.​1038/​ng.​499 PubMedCrossRef

go back to reference Ng SB, Turner EH, Robertson PD, Flygare SD, Bigham AW, Lee C, Shaffer T, Wong M, Bhattacharjee A, Eichler EE, Bamshad M, Nickerson DA, Shendure J (2009) Targeted capture and massively parallel sequencing of 12 human exomes. Nature 461(7261):272–276. doi:10.1038/nature08250 PubMedCrossRef Ng SB, Turner EH, Robertson PD, Flygare SD, Bigham AW, Lee C, Shaffer T, Wong M, Bhattacharjee A, Eichler EE, Bamshad M, Nickerson DA, Shendure J (2009) Targeted capture and massively parallel sequencing of 12 human exomes. Nature 461(7261):272–276. doi:10.​1038/​nature08250 PubMedCrossRef

go back to reference Nowak KJ (2012) Trusting new age weapons to tackle titin. Brain 135(Pt 6):1665–1667. doi:10.1093/brain/aws123 PubMedCrossRef Nowak KJ (2012) Trusting new age weapons to tackle titin. Brain 135(Pt 6):1665–1667. doi:10.​1093/​brain/​aws123 PubMedCrossRef

go back to reference Ohlsson M, Hedberg C, Bradvik B, Lindberg C, Tajsharghi H, Danielsson O, Melberg A, Udd B, Martinsson T, Oldfors A (2012) Hereditary myopathy with early respiratory failure associated with a mutation in A-band titin. Brain 135(Pt 6):1682–1694. doi:10.1093/brain/aws103 PubMedCrossRef Ohlsson M, Hedberg C, Bradvik B, Lindberg C, Tajsharghi H, Danielsson O, Melberg A, Udd B, Martinsson T, Oldfors A (2012) Hereditary myopathy with early respiratory failure associated with a mutation in A-band titin. Brain 135(Pt 6):1682–1694. doi:10.​1093/​brain/​aws103 PubMedCrossRef

go back to reference Oudet C, Hanauer A, Clemens P, Caskey T, Mandel JL (1992) Two hot spots of recombination in the DMD gene correlate with the deletion prone regions. Hum Mol Genet 1(8):599–603PubMedCrossRef Oudet C, Hanauer A, Clemens P, Caskey T, Mandel JL (1992) Two hot spots of recombination in the DMD gene correlate with the deletion prone regions. Hum Mol Genet 1(8):599–603PubMedCrossRef

go back to reference Palomaki GE, Deciu C, Kloza EM, Lambert-Messerlian GM, Haddow JE, Neveux LM, Ehrich M, van den Boom D, Bombard AT, Grody WW, Nelson SF, Canick JA (2012) DNA sequencing of maternal plasma reliably identifies trisomy 18 and trisomy 13 as well as Down syndrome: an international collaborative study. Genet Med 14(3):296–305. doi:10.1038/gim.2011.73 PubMedCrossRef Palomaki GE, Deciu C, Kloza EM, Lambert-Messerlian GM, Haddow JE, Neveux LM, Ehrich M, van den Boom D, Bombard AT, Grody WW, Nelson SF, Canick JA (2012) DNA sequencing of maternal plasma reliably identifies trisomy 18 and trisomy 13 as well as Down syndrome: an international collaborative study. Genet Med 14(3):296–305. doi:10.​1038/​gim.​2011.​73 PubMedCrossRef

go back to reference Pfeffer G, Elliott HR, Griffin H, Barresi R, Miller J, Marsh J, Evila A, Vihola A, Hackman P, Straub V, Dick DJ, Horvath R, Santibanez-Koref M, Udd B, Chinnery PF (2012) Titin mutation segregates with hereditary myopathy with early respiratory failure. Brain 135(Pt 6):1695–1713. doi:10.1093/brain/aws102 PubMedCrossRef Pfeffer G, Elliott HR, Griffin H, Barresi R, Miller J, Marsh J, Evila A, Vihola A, Hackman P, Straub V, Dick DJ, Horvath R, Santibanez-Koref M, Udd B, Chinnery PF (2012) Titin mutation segregates with hereditary myopathy with early respiratory failure. Brain 135(Pt 6):1695–1713. doi:10.​1093/​brain/​aws102 PubMedCrossRef

go back to reference Phillips MS, Fujii J, Khanna VK, DeLeon S, Yokobata K, de Jong PJ, MacLennan DH (1996) The structural organization of the human skeletal muscle ryanodine receptor (RYR1) gene. Genomics 34(1):24–41. doi:10.1006/geno.1996.0238 PubMedCrossRef Phillips MS, Fujii J, Khanna VK, DeLeon S, Yokobata K, de Jong PJ, MacLennan DH (1996) The structural organization of the human skeletal muscle ryanodine receptor (RYR1) gene. Genomics 34(1):24–41. doi:10.​1006/​geno.​1996.​0238 PubMedCrossRef

go back to reference Pop M, Salzberg SL (2008) Bioinformatics challenges of new sequencing technology. Trends Genet 24(3):142–149. doi:10.1016/j.tig.2007.12.006 PubMedCrossRef Pop M, Salzberg SL (2008) Bioinformatics challenges of new sequencing technology. Trends Genet 24(3):142–149. doi:10.​1016/​j.​tig.​2007.​12.​006 PubMedCrossRef

go back to reference Prior TW (2010) Perspectives and diagnostic considerations in spinal muscular atrophy. Genet Med 12(3):145–152. doi:10.1097/GIM.0b013e3181c5e713 PubMedCrossRef Prior TW (2010) Perspectives and diagnostic considerations in spinal muscular atrophy. Genet Med 12(3):145–152. doi:10.​1097/​GIM.​0b013e3181c5e713​ PubMedCrossRef

go back to reference Prior TW, Bridgeman SJ (2005) Experience and strategy for the molecular testing of Duchenne muscular dystrophy. J Mol Diagn 7(3):317–326. doi:10.1016/S1525-1578(10)60560-0 PubMedCrossRef Prior TW, Bridgeman SJ (2005) Experience and strategy for the molecular testing of Duchenne muscular dystrophy. J Mol Diagn 7(3):317–326. doi:10.​1016/​S1525-1578(10)60560-0 PubMedCrossRef

go back to reference Ramensky V, Bork P, Sunyaev S (2002) Human non-synonymous SNPs: server and survey. Nucleic Acids Res 30(17):3894–3900PubMedCrossRef Ramensky V, Bork P, Sunyaev S (2002) Human non-synonymous SNPs: server and survey. Nucleic Acids Res 30(17):3894–3900PubMedCrossRef

go back to reference Raymond FL, Whittaker J, Jenkins L, Lench N, Chitty LS (2010) Molecular prenatal diagnosis: the impact of modern technologies. Prenat Diagn 30(7):674–681. doi:10.1002/pd.2575 PubMedCrossRef Raymond FL, Whittaker J, Jenkins L, Lench N, Chitty LS (2010) Molecular prenatal diagnosis: the impact of modern technologies. Prenat Diagn 30(7):674–681. doi:10.​1002/​pd.​2575 PubMedCrossRef

go back to reference Renton AE, Majounie E, Waite A, Simon-Sanchez J, Rollinson S, Gibbs JR, Schymick JC, Laaksovirta H, van Swieten JC, Myllykangas L, Kalimo H, Paetau A, Abramzon Y, Remes AM, Kaganovich A, Scholz SW, Duckworth J, Ding J, Harmer DW, Hernandez DG, Johnson JO, Mok K, Ryten M, Trabzuni D, Guerreiro RJ, Orrell RW, Neal J, Murray A, Pearson J, Jansen IE, Sondervan D, Seelaar H, Blake D, Young K, Halliwell N, Callister JB, Toulson G, Richardson A, Gerhard A, Snowden J, Mann D, Neary D, Nalls MA, Peuralinna T, Jansson L, Isoviita VM, Kaivorinne AL, Holtta-Vuori M, Ikonen E, Sulkava R, Benatar M, Wuu J, Chio A, Restagno G, Borghero G, Sabatelli M, Heckerman D, Rogaeva E, Zinman L, Rothstein JD, Sendtner M, Drepper C, Eichler EE, Alkan C, Abdullaev Z, Pack SD, Dutra A, Pak E, Hardy J, Singleton A, Williams NM, Heutink P, Pickering-Brown S, Morris HR, Tienari PJ, Traynor BJ (2011) A hexanucleotide repeat expansion in C9ORF72 is the cause of chromosome 9p21-linked ALS-FTD. Neuron 72(2):257–268. doi:10.1016/j.neuron.2011.09.010 PubMedCrossRef Renton AE, Majounie E, Waite A, Simon-Sanchez J, Rollinson S, Gibbs JR, Schymick JC, Laaksovirta H, van Swieten JC, Myllykangas L, Kalimo H, Paetau A, Abramzon Y, Remes AM, Kaganovich A, Scholz SW, Duckworth J, Ding J, Harmer DW, Hernandez DG, Johnson JO, Mok K, Ryten M, Trabzuni D, Guerreiro RJ, Orrell RW, Neal J, Murray A, Pearson J, Jansen IE, Sondervan D, Seelaar H, Blake D, Young K, Halliwell N, Callister JB, Toulson G, Richardson A, Gerhard A, Snowden J, Mann D, Neary D, Nalls MA, Peuralinna T, Jansson L, Isoviita VM, Kaivorinne AL, Holtta-Vuori M, Ikonen E, Sulkava R, Benatar M, Wuu J, Chio A, Restagno G, Borghero G, Sabatelli M, Heckerman D, Rogaeva E, Zinman L, Rothstein JD, Sendtner M, Drepper C, Eichler EE, Alkan C, Abdullaev Z, Pack SD, Dutra A, Pak E, Hardy J, Singleton A, Williams NM, Heutink P, Pickering-Brown S, Morris HR, Tienari PJ, Traynor BJ (2011) A hexanucleotide repeat expansion in C9ORF72 is the cause of chromosome 9p21-linked ALS-FTD. Neuron 72(2):257–268. doi:10.​1016/​j.​neuron.​2011.​09.​010 PubMedCrossRef

go back to reference Ronaghi M, Karamohamed S, Pettersson B, Uhlen M, Nyren P (1996) Real-time DNA sequencing using detection of pyrophosphate release. Anal Biochem 242(1):84–89. doi:10.1006/abio.1996.0432 PubMedCrossRef Ronaghi M, Karamohamed S, Pettersson B, Uhlen M, Nyren P (1996) Real-time DNA sequencing using detection of pyrophosphate release. Anal Biochem 242(1):84–89. doi:10.​1006/​abio.​1996.​0432 PubMedCrossRef

go back to reference Rosen DR, Siddique T, Patterson D, Figlewicz DA, Sapp P, Hentati A, Donaldson D, Goto J, O’Regan JP, Deng HX et al (1993) Mutations in Cu/Zn superoxide dismutase gene are associated with familial amyotrophic lateral sclerosis. Nature 362(6415):59–62. doi:10.1038/362059a0 PubMedCrossRef Rosen DR, Siddique T, Patterson D, Figlewicz DA, Sapp P, Hentati A, Donaldson D, Goto J, O’Regan JP, Deng HX et al (1993) Mutations in Cu/Zn superoxide dismutase gene are associated with familial amyotrophic lateral sclerosis. Nature 362(6415):59–62. doi:10.​1038/​362059a0 PubMedCrossRef

go back to reference Rothberg JM, Hinz W, Rearick TM, Schultz J, Mileski W, Davey M, Leamon JH, Johnson K, Milgrew MJ, Edwards M, Hoon J, Simons JF, Marran D, Myers JW, Davidson JF, Branting A, Nobile JR, Puc BP, Light D, Clark TA, Huber M, Branciforte JT, Stoner IB, Cawley SE, Lyons M, Fu Y, Homer N, Sedova M, Miao X, Reed B, Sabina J, Feierstein E, Schorn M, Alanjary M, Dimalanta E, Dressman D, Kasinskas R, Sokolsky T, Fidanza JA, Namsaraev E, McKernan KJ, Williams A, Roth GT, Bustillo J (2011) An integrated semiconductor device enabling non-optical genome sequencing. Nature 475(7356):348–352. doi:10.1038/nature10242 PubMedCrossRef Rothberg JM, Hinz W, Rearick TM, Schultz J, Mileski W, Davey M, Leamon JH, Johnson K, Milgrew MJ, Edwards M, Hoon J, Simons JF, Marran D, Myers JW, Davidson JF, Branting A, Nobile JR, Puc BP, Light D, Clark TA, Huber M, Branciforte JT, Stoner IB, Cawley SE, Lyons M, Fu Y, Homer N, Sedova M, Miao X, Reed B, Sabina J, Feierstein E, Schorn M, Alanjary M, Dimalanta E, Dressman D, Kasinskas R, Sokolsky T, Fidanza JA, Namsaraev E, McKernan KJ, Williams A, Roth GT, Bustillo J (2011) An integrated semiconductor device enabling non-optical genome sequencing. Nature 475(7356):348–352. doi:10.​1038/​nature10242 PubMedCrossRef

go back to reference Saporta AS, Sottile SL, Miller LJ, Feely SM, Siskind CE, Shy ME (2011) Charcot–Marie–Tooth disease subtypes and genetic testing strategies. Ann Neurol 69(1):22–33. doi:10.1002/ana.22166 PubMedCrossRef Saporta AS, Sottile SL, Miller LJ, Feely SM, Siskind CE, Shy ME (2011) Charcot–Marie–Tooth disease subtypes and genetic testing strategies. Ann Neurol 69(1):22–33. doi:10.​1002/​ana.​22166 PubMedCrossRef

go back to reference Sboner A, Mu XJ, Greenbaum D, Auerbach RK, Gerstein MB (2011) The real cost of sequencing: higher than you think! Genome Biol 12(8):125. doi:10.1186/gb-2011-12-8-125 PubMedCrossRef Sboner A, Mu XJ, Greenbaum D, Auerbach RK, Gerstein MB (2011) The real cost of sequencing: higher than you think! Genome Biol 12(8):125. doi:10.​1186/​gb-2011-12-8-125 PubMedCrossRef

go back to reference Schwartz MK (1999) Genetic testing and the clinical laboratory improvement amendments of 1988: present and future. Clin Chem 45(5):739–745PubMed Schwartz MK (1999) Genetic testing and the clinical laboratory improvement amendments of 1988: present and future. Clin Chem 45(5):739–745PubMed

go back to reference Tennyson CN, Klamut HJ, Worton RG (1995) The human dystrophin gene requires 16 hours to be transcribed and is cotranscriptionally spliced. Nat Genet 9(2):184–190. doi:10.1038/ng0295-184 PubMedCrossRef Tennyson CN, Klamut HJ, Worton RG (1995) The human dystrophin gene requires 16 hours to be transcribed and is cotranscriptionally spliced. Nat Genet 9(2):184–190. doi:10.​1038/​ng0295-184 PubMedCrossRef

go back to reference Tewhey R, Warner JB, Nakano M, Libby B, Medkova M, David PH, Kotsopoulos SK, Samuels ML, Hutchison JB, Larson JW, Topol EJ, Weiner MP, Harismendy O, Olson J, Link DR, Frazer KA (2009) Microdroplet-based PCR enrichment for large-scale targeted sequencing. Nat Biotechnol 27(11):1025–1031. doi:10.1038/nbt.1583 PubMedCrossRef Tewhey R, Warner JB, Nakano M, Libby B, Medkova M, David PH, Kotsopoulos SK, Samuels ML, Hutchison JB, Larson JW, Topol EJ, Weiner MP, Harismendy O, Olson J, Link DR, Frazer KA (2009) Microdroplet-based PCR enrichment for large-scale targeted sequencing. Nat Biotechnol 27(11):1025–1031. doi:10.​1038/​nbt.​1583 PubMedCrossRef

go back to reference Tosch V, Vasli N, Kretz C, Nicot AS, Gasnier C, Dondaine N, Oriot D, Barth M, Puissant H, Romero NB, Bonnemann CG, Heller B, Duval G, Biancalana V, Laporte J (2010) Novel molecular diagnostic approaches for X-linked centronuclear (myotubular) myopathy reveal intronic mutations. Neuromuscul Disord 20(6):375–381. doi:10.1016/j.nmd.2010.03.015 PubMedCrossRef Tosch V, Vasli N, Kretz C, Nicot AS, Gasnier C, Dondaine N, Oriot D, Barth M, Puissant H, Romero NB, Bonnemann CG, Heller B, Duval G, Biancalana V, Laporte J (2010) Novel molecular diagnostic approaches for X-linked centronuclear (myotubular) myopathy reveal intronic mutations. Neuromuscul Disord 20(6):375–381. doi:10.​1016/​j.​nmd.​2010.​03.​015 PubMedCrossRef

go back to reference Trapnell C, Salzberg SL (2009) How to map billions of short reads onto genomes. Nat Biotechnol 27(5):455–457. doi:10.1038/nbt0509-455 PubMedCrossRef Trapnell C, Salzberg SL (2009) How to map billions of short reads onto genomes. Nat Biotechnol 27(5):455–457. doi:10.​1038/​nbt0509-455 PubMedCrossRef

go back to reference Tucker EJ, Mimaki M, Compton AG, McKenzie M, Ryan MT, Thorburn DR (2011) Next-generation sequencing in molecular diagnosis: NUBPL mutations highlight the challenges of variant detection and interpretation. Hum Mutat 33(2):411–418. doi:10.1002/humu.21654 PubMedCrossRef Tucker EJ, Mimaki M, Compton AG, McKenzie M, Ryan MT, Thorburn DR (2011) Next-generation sequencing in molecular diagnosis: NUBPL mutations highlight the challenges of variant detection and interpretation. Hum Mutat 33(2):411–418. doi:10.​1002/​humu.​21654 PubMedCrossRef

go back to reference Valouev A, Ichikawa J, Tonthat T, Stuart J, Ranade S, Peckham H, Zeng K, Malek JA, Costa G, McKernan K, Sidow A, Fire A, Johnson SM (2008) A high-resolution, nucleosome position map of C. elegans reveals a lack of universal sequence-dictated positioning. Genome Res 18(7):1051–1063. doi:10.1101/gr.076463.108 PubMedCrossRef Valouev A, Ichikawa J, Tonthat T, Stuart J, Ranade S, Peckham H, Zeng K, Malek JA, Costa G, McKernan K, Sidow A, Fire A, Johnson SM (2008) A high-resolution, nucleosome position map of C. elegans reveals a lack of universal sequence-dictated positioning. Genome Res 18(7):1051–1063. doi:10.​1101/​gr.​076463.​108 PubMedCrossRef

go back to reference Vasli N, Bohm J, Le Gras S, Muller J, Pizot C, Jost B, Echaniz-Laguna A, Laugel V, Tranchant C, Bernard R, Plewniak F, Vicaire S, Levy N, Chelly J, Mandel JL, Biancalana V, Laporte J (2012) Next generation sequencing for molecular diagnosis of neuromuscular diseases. Acta Neuropathol 124(2):273–283. doi:10.1007/s00401-012-0982-8 PubMedCrossRef Vasli N, Bohm J, Le Gras S, Muller J, Pizot C, Jost B, Echaniz-Laguna A, Laugel V, Tranchant C, Bernard R, Plewniak F, Vicaire S, Levy N, Chelly J, Mandel JL, Biancalana V, Laporte J (2012) Next generation sequencing for molecular diagnosis of neuromuscular diseases. Acta Neuropathol 124(2):273–283. doi:10.​1007/​s00401-012-0982-8 PubMedCrossRef

go back to reference Wang K, Li M, Hakonarson H (2010) ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data. Nucleic Acids Res 38(16):e164. doi:10.1093/nar/gkq603 PubMedCrossRef Wang K, Li M, Hakonarson H (2010) ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data. Nucleic Acids Res 38(16):e164. doi:10.​1093/​nar/​gkq603 PubMedCrossRef

go back to reference Wheeler DA, Srinivasan M, Egholm M, Shen Y, Chen L, McGuire A, He W, Chen YJ, Makhijani V, Roth GT, Gomes X, Tartaro K, Niazi F, Turcotte CL, Irzyk GP, Lupski JR, Chinault C, Song XZ, Liu Y, Yuan Y, Nazareth L, Qin X, Muzny DM, Margulies M, Weinstock GM, Gibbs RA, Rothberg JM (2008) The complete genome of an individual by massively parallel DNA sequencing. Nature 452(7189):872–876. doi:10.1038/nature06884 PubMedCrossRef Wheeler DA, Srinivasan M, Egholm M, Shen Y, Chen L, McGuire A, He W, Chen YJ, Makhijani V, Roth GT, Gomes X, Tartaro K, Niazi F, Turcotte CL, Irzyk GP, Lupski JR, Chinault C, Song XZ, Liu Y, Yuan Y, Nazareth L, Qin X, Muzny DM, Margulies M, Weinstock GM, Gibbs RA, Rothberg JM (2008) The complete genome of an individual by massively parallel DNA sequencing. Nature 452(7189):872–876. doi:10.​1038/​nature06884 PubMedCrossRef

go back to reference Wijmenga C, Hewitt JE, Sandkuijl LA, Clark LN, Wright TJ, Dauwerse HG, Gruter AM, Hofker MH, Moerer P, Williamson R et al (1992) Chromosome 4q DNA rearrangements associated with facioscapulohumeral muscular dystrophy. Nat Genet 2(1):26–30. doi:10.1038/ng0992-26 PubMedCrossRef Wijmenga C, Hewitt JE, Sandkuijl LA, Clark LN, Wright TJ, Dauwerse HG, Gruter AM, Hofker MH, Moerer P, Williamson R et al (1992) Chromosome 4q DNA rearrangements associated with facioscapulohumeral muscular dystrophy. Nat Genet 2(1):26–30. doi:10.​1038/​ng0992-26 PubMedCrossRef

go back to reference Yang Y, Hentati A, Deng HX, Dabbagh O, Sasaki T, Hirano M, Hung WY, Ouahchi K, Yan J, Azim AC, Cole N, Gascon G, Yagmour A, Ben-Hamida M, Pericak-Vance M, Hentati F, Siddique T (2001) The gene encoding alsin, a protein with three guanine-nucleotide exchange factor domains, is mutated in a form of recessive amyotrophic lateral sclerosis. Nat Genet 29(2):160–165. doi:10.1038/ng1001-160ng1001-160 PubMedCrossRef Yang Y, Hentati A, Deng HX, Dabbagh O, Sasaki T, Hirano M, Hung WY, Ouahchi K, Yan J, Azim AC, Cole N, Gascon G, Yagmour A, Ben-Hamida M, Pericak-Vance M, Hentati F, Siddique T (2001) The gene encoding alsin, a protein with three guanine-nucleotide exchange factor domains, is mutated in a form of recessive amyotrophic lateral sclerosis. Nat Genet 29(2):160–165. doi:10.​1038/​ng1001-160ng1001-160 PubMedCrossRef

go back to reference Zimmern RL, Kroese M (2007) The evaluation of genetic tests. J Public Health (Oxf) 29(3):246–250. doi:10.1093/pubmed/fdm028 CrossRef Zimmern RL, Kroese M (2007) The evaluation of genetic tests. J Public Health (Oxf) 29(3):246–250. doi:10.​1093/​pubmed/​fdm028 CrossRef