Introducing high-throughput sequencing into mainstream genetic diagnosis practice in inherited platelet disorders.

ABSTRACT: Inherited platelet disorders are a heterogeneous group of rare diseases, caused by inherited defects in platelet production and/or function. Their genetic diagnosis would benefit clinical care, prognosis and preventative treatments. Until recently, this diagnosis has usually been performed via Sanger sequencing of a limited number of candidate genes. High-throughput sequencing is revolutionizing the genetic diagnosis of diseases, including bleeding disorders. We have designed a novel high-throughput sequencing platform to investigate the unknown molecular pathology in a cohort of 82 patients with inherited platelet disorders. Thirty-four (41.5%) patients presented with a phenotype strongly indicative of a particular type of platelet disorder. The other patients had clinical bleeding

SUBMITTER: Bastida JM 

PROVIDER: S-EPMC5777202 | biostudies-literature | 2018 Jan

REPOSITORIES: biostudies-literature