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Comprehensive evaluation of ACMG/AMP-based variant classification tools.

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Title: Comprehensive evaluation of ACMG/AMP-based variant classification tools.
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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  Data: <searchLink fieldCode="AU" term="%22Ghasemnejad+T%22">Ghasemnejad T</searchLink>; UNSW BioMedical Machine Learning Lab (BML), School of Biomedical Engineering, UNSW Sydney, Sydney, NSW 2052, Australia.<br /><searchLink fieldCode="AU" term="%22Liang+Y%22">Liang Y</searchLink>; UNSW BioMedical Machine Learning Lab (BML), School of Biomedical Engineering, UNSW Sydney, Sydney, NSW 2052, Australia.<br /><searchLink fieldCode="AU" term="%22Jahanian+KH%22">Jahanian KH</searchLink>; Center of Excellence in Precision Medicine and Digital Health, Department of Physiology, Faculty of Dentistry, Chulalongkorn University, Bangkok 10330, Thailand.<br /><searchLink fieldCode="AU" term="%22Eidi+M%22">Eidi M</searchLink>; The International ImMunoGeneTics Information System (IMGT), National Center for Scientific Research (CNRS), Institute of Human Genetics (IGH), University of Montpellier (UM), Montpellier 34396, France.<br /><searchLink fieldCode="AU" term="%22Salmaninejad+A%22">Salmaninejad A</searchLink>; Center for Individualized Medicine, Mayo Clinic, Rochester, MN 55905, United States.<br /><searchLink fieldCode="AU" term="%22Abedini+SS%22">Abedini SS</searchLink>; UNSW BioMedical Machine Learning Lab (BML), School of Biomedical Engineering, UNSW Sydney, Sydney, NSW 2052, Australia.<br /><searchLink fieldCode="AU" term="%22Horta+F%22">Horta F</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Lovell+NH%22">Lovell NH</searchLink>; School of Biomedical Engineering, UNSW Sydney, Sydney, NSW 2052, Australia.<br /><searchLink fieldCode="AU" term="%22Porntaveetus+T%22">Porntaveetus T</searchLink>; Center of Excellence in Precision Medicine and Digital Health, Department of Physiology, Faculty of Dentistry, Chulalongkorn University, Bangkok 10330, Thailand.<br /><searchLink fieldCode="AU" term="%22Grosser+M%22">Grosser M</searchLink>; Unit 82/26-32, 23Strands, Pirrama Rd, Pyrmont, NSW 2009, Australia.<br /><searchLink fieldCode="AU" term="%22Aarabi+M%22">Aarabi M</searchLink>; Departments of Pathology, and Obstetrics, Gynecology and Reproductive Sciences, University of Pittsburgh School of Medicine, Pittsburgh, PA 15213, United States.<br /><searchLink fieldCode="AU" term="%22Alinejad-Rokny+H%22">Alinejad-Rokny H</searchLink>; 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.
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              Text: 2026 Feb 03
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