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Discordance between a deep learning model and clinical-grade variant pathogenicity classification in a rare disease cohort.

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Title: Discordance between a deep learning model and clinical-grade variant pathogenicity classification in a rare disease cohort.
Authors: Kong SW; Computational Health Informatics Program, Boston Children's Hospital, Boston, MA, 02215, USA. sekwon.kong@childrens.harvard.edu.; Department of Pediatrics, Harvard Medical School, Boston, MA, 02115, USA. sekwon.kong@childrens.harvard.edu., Lee IH; Computational Health Informatics Program, Boston Children's Hospital, Boston, MA, 02215, USA., Collen LV; Department of Pediatrics, Harvard Medical School, Boston, MA, 02115, USA.; Division of Gastroenterology, Hepatology, and Nutrition, Boston Children's Hospital, Boston, MA, 02215, USA., Field M; Department of Pediatrics, Harvard Medical School, Boston, MA, 02115, USA.; Division of Gastroenterology, Hepatology, and Nutrition, Boston Children's Hospital, Boston, MA, 02215, USA., Manrai AK; Department of Biomedical Informatics, Harvard Medical School, Boston, MA, 02115, USA., Snapper SB; Department of Pediatrics, Harvard Medical School, Boston, MA, 02115, USA.; Division of Gastroenterology, Hepatology, and Nutrition, Boston Children's Hospital, Boston, MA, 02215, USA., Mandl KD; Computational Health Informatics Program, Boston Children's Hospital, Boston, MA, 02215, USA.; Department of Pediatrics, Harvard Medical School, Boston, MA, 02115, USA.; Department of Biomedical Informatics, Harvard Medical School, Boston, MA, 02115, USA.
Source: NPJ genomic medicine [NPJ Genom Med] 2025 Feb 28; Vol. 10 (1), pp. 17. Date of Electronic Publication: 2025 Feb 28.
Publication Type: Journal Article
Journal Info: Publisher: Springer Nature in partnership with the Center of Excellence in Genomic Medicine Research at King Abdulaziz University Country of Publication: England NLM ID: 101685193 Publication Model: Electronic Cited Medium: Internet ISSN: 2056-7944 (Electronic) Linking ISSN: 20567944 NLM ISO Abbreviation: NPJ Genom Med Subsets: PubMed not MEDLINE
Database: MEDLINE Ultimate
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  Data: <searchLink fieldCode="AU" term="%22Kong+SW%22">Kong SW</searchLink>; Computational Health Informatics Program, Boston Children's Hospital, Boston, MA, 02215, USA. sekwon.kong@childrens.harvard.edu.; Department of Pediatrics, Harvard Medical School, Boston, MA, 02115, USA. sekwon.kong@childrens.harvard.edu.<br /><searchLink fieldCode="AU" term="%22Lee+IH%22">Lee IH</searchLink>; Computational Health Informatics Program, Boston Children's Hospital, Boston, MA, 02215, USA.<br /><searchLink fieldCode="AU" term="%22Collen+LV%22">Collen LV</searchLink>; Department of Pediatrics, Harvard Medical School, Boston, MA, 02115, USA.; Division of Gastroenterology, Hepatology, and Nutrition, Boston Children's Hospital, Boston, MA, 02215, USA.<br /><searchLink fieldCode="AU" term="%22Field+M%22">Field M</searchLink>; Department of Pediatrics, Harvard Medical School, Boston, MA, 02115, USA.; Division of Gastroenterology, Hepatology, and Nutrition, Boston Children's Hospital, Boston, MA, 02215, USA.<br /><searchLink fieldCode="AU" term="%22Manrai+AK%22">Manrai AK</searchLink>; Department of Biomedical Informatics, Harvard Medical School, Boston, MA, 02115, USA.<br /><searchLink fieldCode="AU" term="%22Snapper+SB%22">Snapper SB</searchLink>; Department of Pediatrics, Harvard Medical School, Boston, MA, 02115, USA.; Division of Gastroenterology, Hepatology, and Nutrition, Boston Children's Hospital, Boston, MA, 02215, USA.<br /><searchLink fieldCode="AU" term="%22Mandl+KD%22">Mandl KD</searchLink>; Computational Health Informatics Program, Boston Children's Hospital, Boston, MA, 02215, USA.; Department of Pediatrics, Harvard Medical School, Boston, MA, 02115, USA.; Department of Biomedical Informatics, Harvard Medical School, Boston, MA, 02115, USA.
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