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

doi:10.3324/haematol.2016.146316

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Article

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

Haematologica - 1 Oct 2016

Johnson Ben, Lowe Gillian C, Futterer Jane, Lordkipanidzé Marie, MacDonald David, Simpson Michael A, Sanchez-Guiú Isabel, Drake Sian, Bem Danai, Leo Vincenzo, Fletcher Sarah J, Dawood Ban, Rivera José, Allsup David, Biss Tina, Bolton-Maggs Paula Hb, Collins Peter, Curry Nicola, Grimley Charlotte, James Beki, Makris Mike, Motwani Jayashree, Pavord Sue, Talks Katherine, Thachil Jecko, Wilde Jonathan, Williams Mike, Harrison Paul, Gissen Paul, Mundell Stuart, Mumford Andrew, Daly Martina E, Watson Steve P, Morgan Neil V

Abstract excerpt

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....

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Identifiers

PMID: 27479822
DOI: 10.3324/haematol.2016.146316
PMCID: PMC5046646

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