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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Detaylı Bibliyografya
Yayımlandı:Genome Med
Asıl Yazarlar: 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
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: BioMed Central 2015
Konular:
Research
Online Erişim:https://ncbi.nlm.nih.gov/pmc/articles/PMC4422517/
https://ncbi.nlm.nih.gov/pubmed/25949529
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13073-015-0151-5
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