ClinPhen extracts and prioritizes patient phenotypes directly from medical records to expedite genetic disease diagnosis
Year: 2018
Type: article
Source: Genetics in Medicine
Authors: Cole A. Deisseroth, Johannes Birgmeier, Ethan E. Bodle, Jennefer N. Kohler, Dena R. Matalon, Yelena Nazarenko, Casie A. Genetti, Catherine A. Brownstein, Klaus Schmitz-Abe, Kelly Schoch, Heidi Cope, Rebecca Signer, Julian A. Martinez-Agosto, Vandana Shashi, Alan H. Beggs, Matthew T. Wheeler, Jonathan A. Bernstein, Gill Bejerano
Language: English
Subfield: Molecular Biology
Domain: Life Sciences
Open Access status: bronze
Funders: National Institutes of Health, Defense Advanced Research Projects Agency, Intellectual and Developmental Disabilities Research Center, Advanced Research Projects Agency, Stanford Bio-X, Manton Center for Orphan Disease Research, Boston Children's Hospital, National Human Genome Research Institute, NIH Office of the Director, Eunice Kennedy Shriver National Institute of Child Health and Human Development, Common Fund
Awards: Center for Undiagnosed Diseases at Stanford, G2740867242, G2901696219, G331367365, G3315061986, UCLA clinical site for the investigation of undiagnosed disorders, G3916677169, G4295357337, G4301318905, Coordinating Center for the Undiagnosed Disease Network Phase II, G4628720680, G4891859528, Boston Intellectual and Developmental Disabilities Research Center, G6154987806, Center for Integrated Approached to Undiagnosed Diseases, Clinical Sequencing Core Facility for the Undiagnosed Diseases Network (UDN), Stanford Center for Undiagnosed Diseases, G7684002728, An integrated and diverse genomic medicine program for undiagnosed diseases
OpenAlex ID: W2951146425