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ClinPhen Extracts and Prioritizes Patient Phenotypes Directly from Medical Records to Expedite Genetic Disease Diagnosis

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

Genetics in Medicine（2018）

引用 67|浏览399
关键词
medical genetics,Mendelian disease diagnosis,natural language processing,prioritized disease phenotypes
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