Human phenotype ontology annotation and cluster analysis to unravel genetic defects in 707 cases wit...
Human phenotype ontology annotation and cluster analysis to unravel genetic defects in 707 cases with unexplained bleeding and platelet disorders
About this item
Full title
Author / Creator
on behalf of the BRIDGE-BPD Consortium , BRIDGE-BPD Consortium , 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 and Freson, Kathleen
Publisher
England: BioMed Central Ltd
Journal title
Language
English
Formats
Publication information
Publisher
England: BioMed Central Ltd
More information
Scope and Contents
Contents
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.
We report a new approach in which the clini...
Alternative Titles
Full title
Human phenotype ontology annotation and cluster analysis to unravel genetic defects in 707 cases with unexplained bleeding and platelet disorders
Authors, Artists and Contributors
Author / Creator
BRIDGE-BPD Consortium
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
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_4422517
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_4422517
Other Identifiers
ISSN
1756-994X
E-ISSN
1756-994X
DOI
10.1186/s13073-015-0151-5
