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Ena-DATASET-UCAM-GEL-15-04-2015-15:15:23:555-345 - samples

ABSTRACT: Whole exome sequencing BAM files for samples from the BRIDGE Consortium with pathogenic or likely pathogenic variants on genes linked to bleeding or platelet disorders.

PROVIDER: EGAD00001001333 | 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]

PMID: 25949529

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