Human phenotype ontology annotation and cluster analysis to unravel genetic defects in 707 cases with unexplained bleeding and platelet disorders

K. Westbury, Sarah; Turro, Ernest; Greene, Daniel; Lentaigne, Claire; M. Kelly, Anne; K. Bariana, Tadbir; Simeoni, Ilenia; Pillois, Xavier; Attwood, Antony; Austin, Steve; B.G. Jansen, Sjoert; Bakchoul, Tamam; Crisp-Hihn, Abi; N. Erber, Wendy; Favier, Rémi; Foad, Nicola; Gattens, Michael; D. Jolley, Jennifer; Liesner, Ri; Meacham, Stuart; M. Millar, Carolyn; T. Nurden, Alan; Peerlinck, Kathelijne; J. Perry, David; Poudel, Pawan; Schulman, Sol; Schulze, Harald; Stephens, Jonathan; Furie, Bruce; N. Robinson, Peter; Van Geet, Chris; Rendon, Augusto; Gomez, Keith; Laffan, Michael; P. Lambert, Michele; Nurden, Paquita; H. Ouwehand, Willem; Richardson, Sylvia; Mumford, Andrew; Freson, Kathleen

doi:10.1186/s13073-015-0151-5

Public

Human phenotype ontology annotation and cluster analysis to unravel genetic defects in 707 cases with unexplained bleeding and platelet disorders

Published in Genome Medicine • Apr 8, 2015

Authors:

Sarah K. Westbury

Ernest Turro

Daniel Greene

Abstract

BACKGROUND: Heritable bleeding and platelet disorders (BPD) are heterogeneous and frequently have an unknown genetic basis. The BRIDGE-BPD study aims to discover new causal genes for BPD by high throughput sequencing using cluster analyses based on improved and standardised deep, multi-system phenot...

Subject

Human genetics

Phenotype

Gene ontology

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