Mapping copy number variation by population-scale genome sequencing

Keywords

Copy-number variationBiologyGenomeVariation (astronomy)Scale (ratio)PopulationEvolutionary biologyStructural variationComputational biologyGeneticsGeographyGeneDemographyCartographyAstronomy

Affiliated Institutions

Related Publications

Large-scale discovery of novel genetic causes of developmental disorders

2014 Nature 1162 citations

Genotype, haplotype and copy-number variation in worldwide human populations

Mattias Jakobsson , Sonja W. Scholz , Paul Scheet +21 more

2008 Nature 904 citations

PurityEst: estimating purity of human tumor samples using next-generation sequencing data

Xiaoping Su , Li Zhang , Jianping Zhang +2 more

Abstract Summary: We developed a novel algorithm, PurityEst, to infer the tumor purity level from the allelic differential representation of heterozygous loci with somatic mutat...

2012 Bioinformatics 77 citations

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

HGVS Recommendations for the Description of Sequence Variants: 2016 Update

Johan T. den Dunnen , Raymond Dalgleish , Donna Maglott +7 more

The consistent and unambiguous description of sequence variants is essential to report and exchange information on the analysis of a genome. In particular, DNA diagnostics criti...

2016 Human Mutation 1593 citations

Publication Info

Year: 2011
Type: article
Volume: 470
Issue: 7332
Pages: 59-65
Citations: 1187
Access: Closed

External Links

View on DOI.org

Social Impact

Altmetric

Mapping copy number variation by population-scale genome sequencing

PlumX Metrics

Social media, news, blog, policy document mentions

Citation Metrics

1187

OpenAlex

Cite This

APA Style

                            
                                
                                    Ryan E. Mills, 
                                
                                    Klaudia Walter, 
                                
                                    Chip Stewart
                                
                                et al.
                            
                            (2011). 
                            Mapping copy number variation by population-scale genome sequencing. 
                            Nature
                            , 470
                            (7332)
                            , 59-65.
                            https://doi.org/10.1038/nature09708
                        

Identifiers

DOI: 10.1038/nature09708