Comprehensive evaluation of ACMG/AMP-based variant classification tools.
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| Title: | Comprehensive evaluation of ACMG/AMP-based variant classification tools. |
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| Authors: | Ghasemnejad T; UNSW BioMedical Machine Learning Lab (BML), School of Biomedical Engineering, UNSW Sydney, Sydney, NSW 2052, Australia., Liang Y; UNSW BioMedical Machine Learning Lab (BML), School of Biomedical Engineering, UNSW Sydney, Sydney, NSW 2052, Australia., Jahanian KH; Center of Excellence in Precision Medicine and Digital Health, Department of Physiology, Faculty of Dentistry, Chulalongkorn University, Bangkok 10330, Thailand., Eidi M; The International ImMunoGeneTics Information System (IMGT), National Center for Scientific Research (CNRS), Institute of Human Genetics (IGH), University of Montpellier (UM), Montpellier 34396, France., Salmaninejad A; Center for Individualized Medicine, Mayo Clinic, Rochester, MN 55905, United States., Abedini SS; UNSW BioMedical Machine Learning Lab (BML), School of Biomedical Engineering, UNSW Sydney, Sydney, NSW 2052, Australia., Horta F; Fertility & Research Centre, Discipline of Women's health, School of Clinical Medicine and the Royal Hospital for Women, University of New South Wales, Sydney, NSW 2031, Australia.; Dept O&G, Monash University, Melbourne, VIC 3168, Australia.; City Fertility, Research Support Unit, Sydney, NSW 2000, Australia., Lovell NH; School of Biomedical Engineering, UNSW Sydney, Sydney, NSW 2052, Australia., Porntaveetus T; Center of Excellence in Precision Medicine and Digital Health, Department of Physiology, Faculty of Dentistry, Chulalongkorn University, Bangkok 10330, Thailand., Grosser M; Unit 82/26-32, 23Strands, Pirrama Rd, Pyrmont, NSW 2009, Australia., Aarabi M; Departments of Pathology, and Obstetrics, Gynecology and Reproductive Sciences, University of Pittsburgh School of Medicine, Pittsburgh, PA 15213, United States., Alinejad-Rokny H; UNSW BioMedical Machine Learning Lab (BML), School of Biomedical Engineering, UNSW Sydney, Sydney, NSW 2052, Australia.; Visiting Scholar (Collaborative Projects), Center of Excellence in Precision Medicine and Digital Health, Chulalongkorn University, Bangkok 10330, Thailand. |
| Source: | Bioinformatics (Oxford, England) [Bioinformatics] 2026 Feb 03; Vol. 42 (2). |
| Publication Type: | Journal Article |
| Journal Info: | Publisher: Oxford University Press Country of Publication: England NLM ID: 9808944 Publication Model: Print Cited Medium: Internet ISSN: 1367-4811 (Electronic) Linking ISSN: 13674803 NLM ISO Abbreviation: Bioinformatics Subsets: MEDLINE |
| Database: | MEDLINE Ultimate |
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| ISSN: | 1367-4811 |
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| DOI: | 10.1093/bioinformatics/btaf623 |
