Identification of genetic variants using bar-coded multiplexed sequencing

David W. Craig; John V. Pearson; Szabolcs Szelinger; Aswin Sekar; Margot Redman; Jason J. Corneveaux; Traci Pawlowski; Trisha Laub; Gary B. Nunn; Dietrich A. Stephan; Nils Homer; Matthew J. Huentelman

doi:10.1038/nmeth.1251

Keywords

dbSNPGenotypingGeneticsBiologyInternational HapMap ProjectMultiplexHuman genomeComputational biologyDNA sequencingGenomeReference genomeENCODE1000 Genomes ProjectSingle-nucleotide polymorphismDNAGeneGenotype

Affiliated Institutions

Related Publications

The diploid genome sequence of an Asian individual

Jun Wang , Wei Wang , Ruiqiang Li +74 more

Here we present the first diploid genome sequence of an Asian individual. The genome was sequenced to 36-fold average coverage using massively parallel sequencing technology. We...

2008 Nature 916 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

Integrating common and rare genetic variation in diverse human populations

David Altshuler , Richard A Gibbs , Leena Peltonen +85 more

Despite great progress in identifying genetic variants that influence human disease, most inherited risk remains unexplained. A more complete understanding requires genome-wide ...

2010 Nature 3123 citations

How important are rare variants in common disease?

Aude Saint Pierre , Emmanuelle Génin

Genome-wide association studies have uncovered hundreds of common genetic variants involved in complex diseases. However, for most complex diseases, these common genetic variant...

2014 Briefings in Functional Genomics 88 citations

Design of association studies with pooled or un‐pooled next‐generation sequencing data

Su Yeon Kim , Yingrui Li , Yiran Guo +6 more

Abstract Most common hereditary diseases in humans are complex and multifactorial. Large‐scale genome‐wide association studies based on SNP genotyping have only identified a sma...

2010 Genetic Epidemiology 84 citations

Publication Info

Year: 2008
Type: article
Volume: 5
Issue: 10
Pages: 887-893
Citations: 303
Access: Closed

External Links

View on DOI.org

Social Impact

Altmetric

Identification of genetic variants using bar-coded multiplexed sequencing

PlumX Metrics

Social media, news, blog, policy document mentions

Citation Metrics

303

OpenAlex

Cite This

APA Style

                            
                                
                                    David W. Craig, 
                                
                                    John V. Pearson, 
                                
                                    Szabolcs Szelinger
                                
                                et al.
                            
                            (2008). 
                            Identification of genetic variants using bar-coded multiplexed sequencing. 
                            Nature Methods
                            , 5
                            (10)
                            , 887-893.
                            https://doi.org/10.1038/nmeth.1251
                        

Identifiers

DOI: 10.1038/nmeth.1251