P591: Assessing the performance of automated HPO term extraction for deep phenotyping of patients receiving WES/WGS in a clinical diagnostic laboratory

書誌詳細
主要な著者: Kai Lee Yap, Anthony Wong, Sachleen Tuteja, Andrew Skol, Andy Drackley, Alexander Ing, Eleanor Hilton, Michael Carroll, Christopher McCabe, Sabah Kadri, Pamela Rathbun, Katrin Leuer, Joel Charrow
フォーマット: 論文
言語:English
出版事項: Elsevier 2023-01-01
シリーズ:Genetics in Medicine Open
オンライン・アクセス:http://www.sciencedirect.com/science/article/pii/S2949774423006386