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Indian Journal of Hematology and Blood Transfusion

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01-01-2019 | Hemolytic Anemia | Review Article

Applications of Next Generation Sequencing in Haematological Disorders—Indian Status: Updates from ISHBT 2018

Authors: Madhavi Maddali, Poonkuzhali Balasubramanian

Published in: Indian Journal of Hematology and Blood Transfusion | Issue 1/2019

Abstract

Research in India based on next generation sequencing (NGS) has been plentiful over the past few years. Significant progress in research both in benign and malignant haematology can be attributed to this technique. It has now progressed to both diagnostic and a theranostic modality in many areas of not only haematology but also other medical specialities. Papers presented at the annual conference of the Indian Society of Haematology and Blood Transfusion, ISHBT (Haematocon 2018) highlighted a snapshot of the research activities using NGS that are ongoing in various academic and other centres. This review summarizes the salient findings of the original research abstracts presented. The papers are divided into two broad subsections of non-malignant and malignant haematology.

Jamwal M, Aggarwal S, Sharma P, Bansal D, Malhotra P, Maitra A, Das R (2018) A next generation sequencing based approach to elucidate the clinical and genetic spectrum of uncommon congenital anemias. Indian J Hematol Blood Transfus 34(suppl 1):S5

More TA, Kedar P, Warang P, Dongerdiye R, Devendra R, Madkaikar M (2018) First report of dysfunctional mechanosensitive Piezo ion channel protein (PIEZO1) associated with hereditary xerocytosis in India. Indian J Hematol Blood Transfus 34(suppl 1):S23

Jajodia E, Fouzia NA, Abraham A, Korula A, Devasia AJ, Srivastava A, Mathews V, George B, Edison ES, Shaji RV (2018) Molecular diagnosis of RBC membranopathy and enzymopathy by long amplicon PCR based next-generation sequencing (LAP-NGS). Indian J Hematol Blood Transfus 34(suppl 1):S76

Senthil Kumar G, Arun KA, Jajodia E, Jain N, George B, Srivastava A, Mathews V, Edison ES, Shaji RV (2018) A novel, NGS based method for the detection of haemoglobin variants. Indian J Hematol Blood Transfus 34(suppl 1):S113

Joshi G, Janet NB, Thenral SG, Sakthivel SM, Srivastava V, Srivastava A, Ramprasad VL, George B, Shaji RV (2018) Exome sequencing reveals complex genetic subtypes of Fanconi anaemia in Indian population. Indian J Hematol Blood Transfus 34(suppl 1):S29

Maddali M, Rajkumar SV, Sankari Devi G, Mathews V, George B, Srivastava A, Edison ES, Shaji RV (2018) A long amplicon PCR—next generation sequencing (LAP-NGS) method for efficient and cost-effective molecular diagnosis of haemophilia A and haemophilia B. Indian J Hematol Blood Transfus 34(suppl 1):S25

Shanbhag S, Soni P, Deshpande R, Yadav S, Shetty S (2018) Unusual clinical and laboratory indicators in two cases leading to the diagnosis of Glanzmanns thrombasthenia (GT). Indian J Hematol Blood Transfus 34(suppl 1):S138

Kawankar NK, Kulkarni B, Shetty S (2018) Identification of novel mutations in RASGRP2 gene in patients with unclassified platelet function disorder. Indian J Hematol Blood Transfus 34(suppl 1):S140

Kamalanathan N, Arun KA, Korula A, Fouzia NA, Abraham A, George B, Mathews V, Edison ES (2018) Molecular diagnosis of primary immunodeficiency diseases. Indian J Hematol Blood Transfus 34(suppl 1):S159

10.

Arun KA, Senthamizhselvi A, Suresh H, Edison ES, Korula A, Fouzia NA, George B, Shaji RV, Mathews V, Balasubramanian P (2018) Screening of genetic variants in congenital neutropenia by next generation sequencing. Indian J Hematol Blood Transfus 34(suppl 1):S31

11.

Bhanshe P, Patkar N, Kodgule R, Jain H, Bagal N, Sangar M, Khattry N, Subramanian PG, Gujral D, Ghoghale S (2018) Ultradeep next generation sequencing (NGS) based measurable residual disease (MRD) assessment in NPM1 mutated acute myeloid leukemia (AML) is the most important predictor of outcome. Indian J Hematol Blood Transfus 34(suppl 1):S14

12.

Naeem F, Raval G, Kodgule R, Chaudhary S, Joshi S, Patkar N (2018) Ultradeep error corrected next generation sequencing (NGS) of CEBPA mutations in acute myeloid leukemia. Indian J Hematol Blood Transfus 34(suppl 1):S261

13.

Ghai SR, Raval G, Kodgule R, Bhanshe P, Choudhary S, Joshi S, Tembhare P, Gujral S, Subramanian PG, Patkar N (2018) NUP98-NSD1 gene rearrangement in acute myeloid leukemia (AML)—report of two cases detected by targeted RNA sequencing. Indian J Hematol Blood Transfus 34(suppl 1):S15

14.

Shaikh AF, Raval G, Kodgule R, Choudhary S, Joshi S, Bhanshe P, Tembhare P, Subramanian PG, Gujral S, Patkar N (2018) A laboratory developed targeted RNA sequencing assay for identification of fusion genes in BCR-ABL1 like precursor B-lineage acute lymphoblastic leukemia (BCR-ABL1 like BCP-ALL). Indian J Hematol Blood Transfus 34(suppl 1):S16

15.

Soni VR, Raval G, Kodgule R, Chaudhary S, Joshi S, Bhanshe P, Subramanium PG, Tembhare P, Gujral D, Patkar N (2018) Development of an in-house low cost RNA sequencing panel for detection of myeloid neoplasms with clonal eosinophilia. Indian J Hematol Blood Transfus 34(suppl 1):S327

16.

Chopra A, Verma D, Singh J, Bakhshi S, Seth R, Kumar R (2018) Comprehensive analysis of lncRNAome in immature T-ALL. Indian J Hematol Blood Transfus 34(suppl 1):S243

17.

Benjamin ESB, Bharathi MR, Senthamizhselvi A, Abraham A, George B, Srivastava A, Mathews V, Balasubramanian P (2018) BCR-ABL kinase domain mutation analysis by next generation sequencing detected additional mutations in chronic myeloid leukemia patients with suboptimal response to imatinib. Indian J Hematol Blood Transfus 34(suppl 1):S39

18.

Tripthi B, Mehta A, Chaudhary S, Joshi S, Raval G, Kodgule R, Gujral S, Subramanian PG, Tembhare P, Patkar N (2018) Ultra deep error corrected next generation sequencing (NGS) of ABL1 kinase domain mutation (KDM) in BCR-ABL1 positive malignancies. Indian J Hematol Blood Transfus 34(Suppl 1):S301

19.

Maddali M, Suresh H, Kulkarni UP, Devasia AJ, Fouzia NA, Korula A, Abraham A, George B, Srivastava A, Shaji RV, Mathews V, Balasubramanian P (2018) Molecular characterization of triple negative myeloproliferative neoplasms (TN-MPN) by targeted next generation sequencing. Indian J Hematol Blood Transfus 34(Suppl 1):S332

Title: Applications of Next Generation Sequencing in Haematological Disorders—Indian Status: Updates from ISHBT 2018
Authors: Madhavi Maddali
Poonkuzhali Balasubramanian
Publication date: 01-01-2019
Publisher: Springer India
Keyword: Hemolytic Anemia
Published in: Indian Journal of Hematology and Blood Transfusion / Issue 1/2019
Print ISSN: 0971-4502
Electronic ISSN: 0974-0449
DOI: https://doi.org/10.1007/s12288-018-01068-4

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