Estimating the mutation load in human genomes

Keywords

BiologyGenomeGeneticsMutation AccumulationAlleleMutationHuman genomeMutation rateGenetic loadDominance (genetics)Genetic variationHuman genetic variation1000 Genomes ProjectSelection (genetic algorithm)GenomicsEvolutionary biologyPopulationGeneGenotypeSingle-nucleotide polymorphism

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

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

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

Worldwide Human Relationships Inferred from Genome-Wide Patterns of Variation

Jun Z. Li , Devin M. Absher , Hua Tang +8 more

Human genetic diversity is shaped by both demographic and biological factors and has fundamental implications for understanding the genetic basis of diseases. We studied 938 unr...

2008 Science 2041 citations

The Genotype-Tissue Expression (GTEx) project.

John T. Lonsdale , Jeffrey Thomas , Mike Salvatore +97 more

Genome-wide association studies have identified thousands of loci for common diseases, but, for the majority of these, the mechanisms underlying disease susceptibility remain un...

2013 PubMed 9436 citations

Publication Info

Year: 2015
Type: review
Volume: 16
Issue: 6
Pages: 333-343
Citations: 312
Access: Closed

External Links

View on DOI.org

Social Impact

Altmetric

Estimating the mutation load in human genomes

PlumX Metrics

Social media, news, blog, policy document mentions

Citation Metrics

312

OpenAlex

Cite This

APA Style

                            
                                
                                    Brenna M. Henn, 
                                
                                    Laura R. Botigué, 
                                
                                    Carlos D. Bustamante
                                
                                et al.
                            
                            (2015). 
                            Estimating the mutation load in human genomes. 
                            Nature Reviews Genetics
                            , 16
                            (6)
                            , 333-343.
                            https://doi.org/10.1038/nrg3931
                        

Identifiers

DOI: 10.1038/nrg3931