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

8 Apr 2015

Abstract excerpt

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 phenotyping of cases. METHODS: We report a new approach in which the clinical and laboratory characteristics of BPD cases...

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PMID: 25949529
DOI: 10.1186/s13073-015-0151-5

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