Genomics of platelet disorders

Sarah K Westbury; Andrew D Mumford

doi:10.1111/hae.12964

Genomics of platelet disorders

Sarah K Westbury, Andrew D Mumford

Research output: Contribution to journal › Article (Academic Journal) › peer-review

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325 Downloads (Pure)

Abstract

Genetic diagnosis in families with inherited platelet disorders (IPD) is not performed widely because of the genetic heterogeneity of this group of disorders and because in most cases, it is not possible to select single candidate genes for analysis using clinical and laboratory phenotypes. Next-generation sequencing (NGS) technology has revolutionized the scale and cost-effectiveness of genetic testing, and has emerged as a valuable tool for IPD. This review examines the potential utility of NGS as a diagnostic tool to streamline detection of causal variants in known IPD genes and as a vehicle for new gene discovery.

Original language	English
Pages (from-to)	20-24
Number of pages	5
Journal	Haemophilia
Volume	22
Issue number	Suppl S5
Early online date	13 Jul 2016
DOIs	https://doi.org/10.1111/hae.12964
Publication status	Published - Jul 2016

Keywords

genetic diagnosis
next-generation sequencing
platelet function disorders
platelet number disorders

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10.1111/hae.12964

Full-text PDF (accepted author manuscript)
This is the author accepted manuscript (AAM). The final published version (version of record) is available online via Wiley at http://onlinelibrary.wiley.com/wol1/doi/10.1111/hae.12964/abstract. Please refer to any applicable terms of use of the publisher.
Accepted author manuscript, 248 KBLicence: CC BY-NC

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Next gen sequencing in platelet number disorders
Mumford, A. D.
1/08/13 → 30/11/17
Project: Research

Cite this

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title = "Genomics of platelet disorders",

abstract = "Genetic diagnosis in families with inherited platelet disorders (IPD) is not performed widely because of the genetic heterogeneity of this group of disorders and because in most cases, it is not possible to select single candidate genes for analysis using clinical and laboratory phenotypes. Next-generation sequencing (NGS) technology has revolutionized the scale and cost-effectiveness of genetic testing, and has emerged as a valuable tool for IPD. This review examines the potential utility of NGS as a diagnostic tool to streamline detection of causal variants in known IPD genes and as a vehicle for new gene discovery.",

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AU - Mumford, Andrew D

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N2 - Genetic diagnosis in families with inherited platelet disorders (IPD) is not performed widely because of the genetic heterogeneity of this group of disorders and because in most cases, it is not possible to select single candidate genes for analysis using clinical and laboratory phenotypes. Next-generation sequencing (NGS) technology has revolutionized the scale and cost-effectiveness of genetic testing, and has emerged as a valuable tool for IPD. This review examines the potential utility of NGS as a diagnostic tool to streamline detection of causal variants in known IPD genes and as a vehicle for new gene discovery.

AB - Genetic diagnosis in families with inherited platelet disorders (IPD) is not performed widely because of the genetic heterogeneity of this group of disorders and because in most cases, it is not possible to select single candidate genes for analysis using clinical and laboratory phenotypes. Next-generation sequencing (NGS) technology has revolutionized the scale and cost-effectiveness of genetic testing, and has emerged as a valuable tool for IPD. This review examines the potential utility of NGS as a diagnostic tool to streamline detection of causal variants in known IPD genes and as a vehicle for new gene discovery.

KW - genetic diagnosis

KW - next-generation sequencing

KW - platelet function disorders

KW - platelet number disorders

U2 - 10.1111/hae.12964

DO - 10.1111/hae.12964

M3 - Article (Academic Journal)

C2 - 27405671

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VL - 22

SP - 20

EP - 24

JO - Haemophilia

JF - Haemophilia

IS - Suppl S5

ER -

Genomics of platelet disorders

Abstract

Keywords

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Next gen sequencing in platelet number disorders

Cite this