A method and server for predicting damaging missense mutations

Keywords

Missense mutationComputational biologyBiologyGeneticsHuman genomeAlleleMutationCoding regionSequence alignmentProtein sequencingSequence (biology)OMIM : Online Mendelian Inheritance in ManGenomeComputer scienceGenePeptide sequence

Affiliated Institutions

Related Publications

Deleterious- and Disease-Allele Prevalence in Healthy Individuals: Insights from Current Predictions, Mutation Databases, and Population-Scale Resequencing

Yali Xue , Yuan Chen , Qasim Ayub +8 more

We have assessed the numbers of potentially deleterious variants in the genomes of apparently healthy humans by using (1) low-coverage whole-genome sequence data from 179 indivi...

2012 The American Journal of Human Genetics 277 citations

Sequence to Medical Phenotypes: A Framework for Interpretation of Human Whole Genome DNA Sequence Data

Frederick E. Dewey , Megan E. Grove , James R. Priest +15 more

High throughput sequencing has facilitated a precipitous drop in the cost of genomic sequencing, prompting predictions of a revolution in medicine via genetic personalization of...

2015 PLoS Genetics 23 citations

Evolution and Functional Impact of Rare Coding Variation from Deep Sequencing of Human Exomes

Jacob A. Tennessen , Abigail W. Bigham , Timothy D. O’Connor +20 more

A Deep Look Into Our Genes Recent debates have focused on the degree of genetic variation and its impact upon health at the genomic level in humans (see the Perspective by Casal...

2012 Science 1695 citations

Genic Intolerance to Functional Variation and the Interpretation of Personal Genomes

Slavé Petrovski , Quanli Wang , Erin L. Heinzen +2 more

A central challenge in interpreting personal genomes is determining which mutations most likely influence disease. Although progress has been made in scoring the functional impa...

2013 PLoS Genetics 975 citations

SIFT web server: predicting effects of amino acid substitutions on proteins

Ngak-Leng Sim , P. Naresh Kumar , Jing Hu +3 more

The Sorting Intolerant from Tolerant (SIFT) algorithm predicts the effect of coding variants on protein function. It was first introduced in 2001, with a corresponding website t...

2012 Nucleic Acids Research 2357 citations

Publication Info

Year: 2010
Type: letter
Volume: 7
Issue: 4
Pages: 248-249
Citations: 13213
Access: Closed

External Links

View on DOI.org

Social Impact

Altmetric

A method and server for predicting damaging missense mutations

PlumX Metrics

Social media, news, blog, policy document mentions

Citation Metrics

13213

OpenAlex

Cite This

APA Style

                            
                                
                                    Ivan Adzhubei, 
                                
                                    Steffen Schmidt, 
                                
                                    Leonid Peshkin
                                
                                et al.
                            
                            (2010). 
                            A method and server for predicting damaging missense mutations. 
                            Nature Methods
                            , 7
                            (4)
                            , 248-249.
                            https://doi.org/10.1038/nmeth0410-248
                        

Identifiers

DOI: 10.1038/nmeth0410-248