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Dataset Information

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University of Newcastle

ABSTRACT: Organisation EGAO00000000448

PROVIDER: EGAO00000000448 | EGA |

REPOSITORIES: EGA

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Publications

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

Westbury Sarah K SK   Turro Ernest E   Greene Daniel D   Lentaigne Claire C   Kelly Anne M AM   Bariana Tadbir K TK   Simeoni Ilenia I   Pillois Xavier X   Attwood Antony A   Austin Steve S   Jansen Sjoert Bg SB   Bakchoul Tamam T   Crisp-Hihn Abi A   Erber Wendy N WN   Favier Rémi R   Foad Nicola N   Gattens Michael M   Jolley Jennifer D JD   Liesner Ri R   Meacham Stuart S   Millar Carolyn M CM   Nurden Alan T AT   Peerlinck Kathelijne K   Perry David J DJ   Poudel Pawan P   Schulman Sol S   Schulze Harald H   Stephens Jonathan C JC   Furie Bruce B   Robinson Peter N PN   van Geet Chris C   Rendon Augusto A   Gomez Keith K   Laffan Michael A MA   Lambert Michele P MP   Nurden Paquita P   Ouwehand Willem H WH   Richardson Sylvia S   Mumford Andrew D AD   Freson Kathleen K  

Genome medicine 20150409 1

<h4>Background</h4>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 phenotyping of cases.<h4>Methods</h4>We report a new approach in which the clinical and laboratory characteristics of BPD cases are annotated with adapted Human Phenotype Ontology (HPO) terms. Cluste  ...[more]

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