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. |
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| 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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