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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| Title: | 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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| 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 |
| FullText | Text: Availability: 0 |
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| Header | DbId: mdl DbLabel: MEDLINE Ultimate An: 41882768 AccessLevel: 2 PubType: Academic Journal PubTypeId: academicJournal PreciseRelevancyScore: 0 |
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| Items | – Name: Title Label: Title Group: Ti Data: Determining the intra-residue correlation of missense variant impact using MAVE scores: implications for the ACMG/AMP PM5 criterion for DNA variant classification. – Name: Author Label: Authors Group: Au Data: <searchLink fieldCode="AU" term="%22Dai+Z%22">Dai Z</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Haque+B%22">Haque B</searchLink>; Program in Genetics and Genome Biology, SickKids Research Institute, 686 Bay Street, Toronto, ON, M5G 0A4, Canada.<br /><searchLink fieldCode="AU" term="%22Xi+S%22">Xi S</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Costain+G%22">Costain G</searchLink>; 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. – Name: TitleSource Label: Source Group: Src Data: <searchLink fieldCode="JN" term="%22101475844%22">Genome medicine</searchLink> [Genome Med] 2026 Mar 26; Vol. 18 (1). <i>Date of Electronic Publication: </i>2026 Mar 26. – Name: TypePub Label: Publication Type Group: TypPub Data: Journal Article; Research Support, Non-U.S. Gov't – Name: TitleSource Label: Journal Info Group: Src Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22BioMed+Central%22">BioMed Central </searchLink><i>Country of Publication: </i>England <i>NLM ID: </i>101475844 <i>Publication Model: </i>Electronic <i>Cited Medium: </i>Internet <i>ISSN: </i>1756-994X (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%221756994X%22">1756994X </searchLink><i>NLM ISO Abbreviation: </i>Genome Med <i>Subsets: </i>MEDLINE |
| PLink | https://search.ebscohost.com/login.aspx?direct=true&site=eds-live&db=mdl&AN=41882768 |
| RecordInfo | BibRecord: BibEntity: Identifiers: – Type: doi Value: 10.1186/s13073-026-01631-z Languages: – Code: eng Text: English Titles: – TitleFull: Determining the intra-residue correlation of missense variant impact using MAVE scores: implications for the ACMG/AMP PM5 criterion for DNA variant classification. Type: main BibRelationships: HasContributorRelationships: – PersonEntity: Name: NameFull: Dai Z – PersonEntity: Name: NameFull: Haque B – PersonEntity: Name: NameFull: Xi S – PersonEntity: Name: NameFull: Costain G IsPartOfRelationships: – BibEntity: Dates: – D: 26 M: 03 Text: 2026 Mar 26 Type: published Y: 2026 Identifiers: – Type: issn-electronic Value: 1756-994X Numbering: – Type: volume Value: 18 – Type: issue Value: 1 Titles: – TitleFull: Genome medicine Type: main |
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