Cited by 1,510Genomics and Rare DiseasesGenomics and Phylogenetic StudiesGenetic Associations and Epidemiology

SIFT missense predictions for genomes

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Vaser, Robert, Adusumalli, Swarnaseetha, Leng, Sim Ngak, Sikic, Mile, Ng, Pauline C·2016·Nature Protocols

Abstract

The SIFT (sorting intolerant from tolerant) algorithm helps bridge the gap between mutations and phenotypic variations by predicting whether an amino acid substitution is deleterious. SIFT has been used in disease, mutation and genetic studies, and a protocol for its use has been previously published with Nature Protocols. This updated protocol describes SIFT 4G (SIFT for genomes), which is a faster version of SIFT that enables practical computations on reference genomes. Users can get predictions for single-nucleotide variants from their organism of interest using the SIFT 4G annotator with SIFT 4G's precomputed databases. The scope of genomic predictions is expanded, with predictions available for more than 200 organisms. Users can also run the SIFT 4G algorithm themselves. SIFT predictions can be retrieved for 6.7 million variants in 4 min once the database has been downloaded. If precomputed predictions are not available, the SIFT 4G algorithm can compute predictions at a rate of 2.6 s per protein sequence. SIFT 4G is available from http://sift-dna.org/sift4g.

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Crossref · 10.1038/nprot.2015.123

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Authors
Vaser, R., Adusumalli, S., Leng, S. N., Sikic, M., & Ng, P. C.
Affiliations
  • University of Zagreb (HR)
  • Agency for Science, Technology and Research (SG)
Corresponding author
Ng, Pauline C
Venue
Nature Protocols
Published
2015-12-03
Volume
11
Issue
1
Pages
1-9
ISSN
  • 1750-2799 (ISSN-L)
  • 1754-2189
OpenAlex
W2195303995
Cited by
1,510
References
35
Citations by year
2026: 119 · 2025: 191 · 2024: 218 · 2023: 169 · 2022: 208 · 2021: 233 · 2020: 162 · 2019: 127 · 2018: 40 · 2017: 29 · 2016: 11 · 2015: 1
FWCI
19.82
Type
journal article
Language
en
Open access
Locations
  • Nature Protocols (publishedVersion)
  • PubMed (publishedVersion)
  • Zenodo (CERN European Organization for Nuclear Research) (cc-by)
Funders
Hrvatska Zaklada za Znanost
Topics
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genomics and Rare Diseases
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Genomics and Phylogenetic Studies
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic Associations and Epidemiology
Keywords
amino acid substitutions, deleterious mutation prediction, single nucleotide variants, reference genome, protein sequence analysis
MeSH terms
Algorithms, Humans, Phenotype, Reference Standards, Mutation, Missense, Genomics, Databases, Protein, Molecular Sequence Annotation

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