Ontology highlight
ABSTRACT:
SUBMITTER: Johnson B
PROVIDER: S-EPMC5046646 | biostudies-literature | 2016 Oct
REPOSITORIES: biostudies-literature
Johnson Ben B Lowe Gillian C GC Futterer Jane J Lordkipanidzé Marie M MacDonald David D Simpson Michael A MA Sanchez-Guiú Isabel I Drake Sian S Bem Danai D Leo Vincenzo V Fletcher Sarah J SJ Dawood Ban B Rivera José J Allsup David D Biss Tina T Bolton-Maggs Paula Hb PH Collins Peter P Curry Nicola N Grimley Charlotte C James Beki B Makris Mike M Motwani Jayashree J Pavord Sue S Talks Katherine K Thachil Jecko J Wilde Jonathan J Williams Mike M Harrison Paul P Gissen Paul P Mundell Stuart S Mumford Andrew A Daly Martina E ME Watson Steve P SP Morgan Neil V NV
Haematologica 20160616 10
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 i ...[more]