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memo - Magazine of European Medical Oncology
Published in: memo - Magazine of European Medical Oncology 2/2019

01-06-2019 | educational

Educational no.5: next-generation gene panel sequencing

Author: Wolfgang Kranewitter

Published in: memo - Magazine of European Medical Oncology | Issue 2/2019

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Summary

Next-generation sequencing allows the simultaneous interrogation of a large number of genomic targets and is therefore highly suitable for situations, in which mutations in many different genes may have a clinical impact. This short educational discusses the process from the sample to the reported mutations and the limits of the method.
Literature
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Richards S, Aziz N, Bale S, et al. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genet Med. 2015;17(5):405–24.CrossRef
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Li MM, Datto M, Duncavage EJ, et al. Standards and guidelines for the interpretation and reporting of sequence variants in Cancer: a joint consensus recommendation of the Association for Molecular Pathology, American Society of Clinical Oncology, and College of American Pathologists. J Mol Diagn. 2017;19(1):4–23.CrossRef
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Ståhlberg A, Krzyzanowski PM, Egyud M, Filges S, Stein L, Godfrey TE. Simple multiplexed PCR-based barcoding of DNA for ultrasensitive mutation detection by next-generation sequencing. Nat Protoc. 2017;12(4):664–82.CrossRef
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Le Gallo M, Lozy F, Bell DW. Next-generation sequencing. Adv Exp Med Biol. 2017;943:119–48.CrossRef
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Yohe S, Thyagarajan B. Review of clinical next-generation sequencing. Arch Pathol Lab Med. 2017;141(11):1544–57.CrossRef
Metadata
Title
Educational no.5: next-generation gene panel sequencing
Author
Wolfgang Kranewitter
Publication date
01-06-2019
Publisher
Springer Vienna
Published in
memo - Magazine of European Medical Oncology / Issue 2/2019
Print ISSN: 1865-5041
Electronic ISSN: 1865-5076
DOI
https://doi.org/10.1007/s12254-019-0479-4

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