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

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...

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Detalles Bibliográficos
Autores principales: Westbury, Sarah K, Turro, Ernest, Greene, Daniel, Lentaigne, Claire, Kelly, Anne M, Bariana, Tadbir K, Simeoni, Ilenia, Pillois, Xavier, Attwood, Antony, Austin, Steve, Jansen, Sjoert BG, Bakchoul, Tamam, Crisp-Hihn, Abi, Erber, Wendy N, Favier, Rémi, Foad, Nicola, Gattens, Michael, Jolley, Jennifer D, Liesner, Ri, Meacham, Stuart, Millar, Carolyn M, Nurden, Alan T, Peerlinck, Kathelijne, Perry, David J, Poudel, Pawan, Schulman, Sol, Schulze, Harald, Stephens, Jonathan C, Furie, Bruce, Robinson, Peter N, van Geet, Chris, Rendon, Augusto, Gomez, Keith, Laffan, Michael A, Lambert, Michele P, Nurden, Paquita, Ouwehand, Willem H, Richardson, Sylvia, Mumford, Andrew D, Freson, Kathleen
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2015
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4422517/
https://www.ncbi.nlm.nih.gov/pubmed/25949529
http://dx.doi.org/10.1186/s13073-015-0151-5

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