Genomics

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Sequencing of heritable Bleeding and Platelet Disorders

ABSTRACT: The BRIDGE-BPD study aims to discover new causal genes for Bleeding and Platelet Disorders (BPD) by high throughput sequencing using cluster analyses based on improved and standardized deep phenotyping of cases. BPD is one of the 13 Rare Disease projects under the NIHR BioResource Rare Diseases BRIDGE consortium, which is a collaboration aiming to discover the genetic sequence variants underlying unresolved inherited disorders and to improve identification of already identified high penetrance variants.

PROVIDER: EGAS00001001172 | EGA |

REPOSITORIES: EGA

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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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