DARVIC: Dihedral angle-reliant variant impact classifier for functional prediction of missense VUS-Reference-Cited by-同舟云学术

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DARVIC: Dihedral angle-reliant variant impact classifier for functional prediction of missense VUS

Published:2023-08 Issue: Volume:238 Page:107596
ISSN:0169-2607
Container-title:Computer Methods and Programs in Biomedicine
language:en
Short-container-title:Computer Methods and Programs in Biomedicine

Author:

Lagniton Philip Naderev P.^ORCID,Tam Benjamin^ORCID,Wang San Ming^ORCID

Funder

Ministry of Education - Singapore

Universidade de Macau

Fundo para o Desenvolvimento das Ciências e da Tecnologia

Faculdade de Ciências da Saúde, Universidade de Macau

Publisher

Elsevier BV

Subject

Health Informatics,Computer Science Applications,Software

Reference62 articles.

1. SNPs, protein structure, and disease;Wang;Hum. Mutat.,2001

2. The human gene mutation database: towards a comprehensive repository of inherited mutation data for medical research, genetic diagnosis and next-generation sequencing studies;Stenson;Hum. Genet.,2017

3. Coming of age: Ten years of next-generation sequencing technologies;Goodwin;Nat. Rev. Genet.,2016

4. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and genomics and the association for molecular pathology;Richards;Genet. Med.,2015

5. Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria;Nykamp;Genet. Med.,2017

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