Analysis of 6,515 exomes reveals the recent origin of most human protein-coding variants

Keywords

BiologyGeneticsMendelian inheritanceGeneEvolutionary biologyPopulationHuman genetic variationGenetic variationExome sequencingHuman genomeMutationGenomeMedicine

Affiliated Institutions

Related Publications

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

The mutational constraint spectrum quantified from variation in 141,456 humans

Konrad J. Karczewski , Laurent C. Francioli , Grace Tiao +97 more

Genetic variants that inactivate protein-coding genes are a powerful source of information about the phenotypic consequences of gene disruption: genes that are crucial for the f...

2020 Nature 9332 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

The human gene damage index as a gene-level approach to prioritizing exome variants

Yuval Itan , Lei Shang , Bertrand Boisson +23 more

Significance The protein-coding exome of a patient with a monogenic disease contains about 20,000 variations, of which only one or two are disease causing. When attempting to se...

2015 Proceedings of the National Academy o... 267 citations

CADD: predicting the deleteriousness of variants throughout the human genome

Philipp Rentzsch , Daniela Witten , Gregory M. Cooper +2 more

Combined Annotation-Dependent Depletion (CADD) is a widely used measure of variant deleteriousness that can effectively prioritize causal variants in genetic analyses, particula...

2018 Nucleic Acids Research 3566 citations

Publication Info

Year: 2012
Type: article
Volume: 493
Issue: 7431
Pages: 216-220
Citations: 1000
Access: Closed

External Links

View on DOI.org

Social Impact

Altmetric

Analysis of 6,515 exomes reveals the recent origin of most human protein-coding variants

PlumX Metrics

Social media, news, blog, policy document mentions

Citation Metrics

1000

OpenAlex

Cite This

APA Style

                            
                                
                                    Wenqing Fu, 
                                
                                    Timothy D. O’Connor, 
                                
                                    Goo Jun
                                
                                et al.
                            
                            (2012). 
                            Analysis of 6,515 exomes reveals the recent origin of most human protein-coding variants. 
                            Nature
                            , 493
                            (7431)
                            , 216-220.
                            https://doi.org/10.1038/nature11690
                        

Identifiers

DOI: 10.1038/nature11690