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Determining the intra-residue correlation of missense variant impact using MAVE scores: implications for the ACMG/AMP PM5 criterion for DNA variant classification.

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Bibliographic Details
Title: Determining the intra-residue correlation of missense variant impact using MAVE scores: implications for the ACMG/AMP PM5 criterion for DNA variant classification.
Authors: Dai Z; Program in Genetics and Genome Biology, SickKids Research Institute, 686 Bay Street, Toronto, ON, M5G 0A4, Canada.; Department of Molecular Genetics, University of Toronto, Toronto, ON, Canada., Haque B; Program in Genetics and Genome Biology, SickKids Research Institute, 686 Bay Street, Toronto, ON, M5G 0A4, Canada., Xi S; Program in Genetics and Genome Biology, SickKids Research Institute, 686 Bay Street, Toronto, ON, M5G 0A4, Canada.; Department of Cell & Systems Biology, and Department of Computer Science, University of Toronto, Toronto, ON, Canada., Costain G; Program in Genetics and Genome Biology, SickKids Research Institute, 686 Bay Street, Toronto, ON, M5G 0A4, Canada. gregory.costain@sickkids.ca.; Department of Molecular Genetics, University of Toronto, Toronto, ON, Canada. gregory.costain@sickkids.ca.; Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, and Department of Paediatrics, University of Toronto, Toronto, ON, Canada. gregory.costain@sickkids.ca.
Source: Genome medicine [Genome Med] 2026 Mar 26; Vol. 18 (1). Date of Electronic Publication: 2026 Mar 26.
Publication Type: Journal Article; Research Support, Non-U.S. Gov't
Journal Info: Publisher: BioMed Central Country of Publication: England NLM ID: 101475844 Publication Model: Electronic Cited Medium: Internet ISSN: 1756-994X (Electronic) Linking ISSN: 1756994X NLM ISO Abbreviation: Genome Med Subsets: MEDLINE
Database: MEDLINE Ultimate
Description
ISSN:1756-994X
DOI:10.1186/s13073-026-01631-z