Whole exome sequencing identifies genetic variants in inherited thrombocytopenia with secondary qualitative function defects.

ABSTRACT: Inherited thrombocytopenias are a heterogeneous group of disorders characterized by abnormally low platelet counts which can be associated with abnormal bleeding. Next-generation sequencing has previously been employed in these disorders for the confirmation of suspected genetic abnormalities, and more recently in the discovery of novel disease-causing genes. However its full potential has not yet been exploited. Over the past 6 years we have sequenced the exomes from 55 patients, including 37 index cases and 18 additional family members, all of whom were recruited to the UK Genotyping and Phenotyping of Platelets study. All patients had inherited or sustained thrombocytopenia of unknown etiology with platelet counts varying from 11×10⁹/L to 186×10⁹/L. Of the 51 patie

SUBMITTER: Johnson B 

PROVIDER: S-EPMC5046646 | biostudies-literature | 2016 Oct

REPOSITORIES: biostudies-literature