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Article

Refinement of the clinical variant interpretation framework by statistical evidence and machine learning.

Med (New York, N.Y.) - 14 May 2021

Takata Atsushi, Hamanaka Kohei, Matsumoto Naomichi

Abstract excerpt

BACKGROUND: Although the American College of Medical Genetics and Genomics/Association for Molecular Pathology (ACMG/AMP) guidelines for variant interpretation are used widely in clinical genetics, there is room for improvement of these knowledge-based guidelines. METHODS: Statistical assessment of average deleteriousness of start-lost, stop-lost, and in-frame insertion and deletion (indel) variants and...

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PMID: 35590234
DOI: 10.1016/j.medj.2021.02.003

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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