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pro vyhledávání: '"Leslie G. Biesecker"'
Publikováno v:
Human Mutation. 39:1525-1530
The Clinical Genome Resource (ClinGen) Sequence Variant Interpretation Working Group set out to refine the American College of Medical Genetics and Genomics and the Association of Molecular Pathologists (ACMG/AMP) variant pathogenicity recommendation
Autor:
Tina Pesaran, Heidi L. Rehm, Marina T. DiStefano, Ahmad N. Abou Tayoun, Leslie G. Biesecker, Steven M. Harrison, Andrea M. Oza
Publikováno v:
Human Mutation. 39:1517-1524
The 2015 ACMG/AMP sequence variant interpretation guideline provided a framework for classifying variants based on several benign and pathogenic evidence criteria, including a pathogenic criterion (PVS1) for predicted loss of function variants. Howev
Publikováno v:
Hum Mutat
Recently, we demonstrated that the qualitative American College of Medical Genetics and Genomics/Association for Medical Pathology (ACMG/AMP) guidelines for evaluation of Mendelian disease gene variants are fundamentally compatible with a quantitativ