UniProt genomic mapping for deciphering functional effects of missense variants-Reference-Cited by-同舟云学术

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UniProt genomic mapping for deciphering functional effects of missense variants

Published:2019-04-03 Issue:6 Volume:40 Page:694-705
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Human Mutation

Author:

McGarvey Peter B.¹²^ORCID,Nightingale Andrew³,Luo Jie³,Huang Hongzhan⁴,Martin Maria J.³,Wu Cathy⁴,Consortium UniProt³⁵²

Affiliation:

1. Innovation Center for Biomedical InformaticsGeorgetown University Medical CenterWashington DC

2. Protein Information ResourceGeorgetown Medical CenterWashington DC

3. European Molecular Biology LaboratoryEuropean Bioinformatics Institute, Wellcome Genome CampusHinxton United Kingdom

4. Center for Bioinformatics and Computational BiologyUniversity of DelawareNewark Delaware

5. Swiss Institute of BioinformaticsCentre Medical UniversitaireGeneva Switzerland

Funder

National Human Genome Research Institute

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/humu.23738

Reference56 articles.

1. Adzhubei I. Jordan D. M. &Sunyaev S. R.(2013). Predicting functional effect of human missense mutations using PolyPhen‐2.Current protocols in human genetics / editorial board Jonathan L. Haines.. [et al.] Chapter 7 Unit7 20. doi:10.1002/0471142905.hg0720s76

2. Ensembl 2017

3. Performance of ACMG-AMP Variant-Interpretation Guidelines among Nine Laboratories in the Clinical Sequencing Exploratory Research Consortium

4. Using large sequencing data sets to refine intragenic disease regions and prioritize clinical variant interpretation

5. Common genetic polymorphism of ITPA gene affects ribavirin-induced anemia and effect of peg-interferon plus ribavirin therapy

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