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algorithms (1) 1
computational biology (1) 1
genetic diseases, inborn - diagnosis (1) 1
genetics & heredity (1) 1
genotype & phenotype (1) 1
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1. Full Text ClinPhen extracts and prioritizes patient phenotypes directly from medical records to expedite genetic disease diagnosis
by Deisseroth, Cole A and Birgmeier, Johannes and Bodle, Ethan E and Kohler, Jennefer N and Matalon, Dena R and Nazarenko, Yelena and Genetti, Casie A and Brownstein, Catherine A and Schmitz-Abe, Klaus and Schoch, Kelly and Cope, Heidi and Signer, Rebecca and Martinez-Agosto, Julian A and Shashi, Vandana and Beggs, Alan H and Wheeler, Matthew T and Bernstein, Jonathan A and Bejerano, Gill and Undiagnosed Diseases Network
Genetics in medicine, ISSN 1098-3600, 2018, Volume 21, Issue 7, pp. 1585 - 1593
Mendelian disease diagnosis | medical genetics | natural language processing | prioritized disease phenotypes | Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Phenotype | Algorithms | Humans | Computational Biology | Medical Records | Natural Language Processing | Genetic Diseases, Inborn - diagnosis | Testing laboratories | Medical diagnosis | Genotype & phenotype | Index Medicus
Journal Article
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