Genotype and SNP calling from next-generation sequencing data

Keywords

BiologySNPGenotypeGeneticsDNA sequencingComputational biologySNP genotypingEvolutionary biologySingle-nucleotide polymorphismGene

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

Allele-Specific Holliday Junction Formation: A New Mechanism of Allelic Discrimination for SNP Scoring

Qinghong Yang , Alla Lishanski , Wendy Yang +3 more

We report here a new mechanism for allelic discrimination—allele-specific Holliday Junction formation. The Holliday Junction (HJ) is a unique DNA structure that can be formed in...

2003 Genome Research 132 citations

A universal SNP and small-indel variant caller using deep neural networks

Ryan Poplin , Pi-Chuan Chang , David H. Alexander +11 more

Despite rapid advances in sequencing technologies, accurately calling genetic variants present in an individual genome from billions of short, errorful sequence reads remains ch...

2018 Nature Biotechnology 1649 citations

Accounting for Human Polymorphisms Predicted to Affect Protein Function

Pauline C. Ng , Steven Henikoff

A major interest in human genetics is to determine whether a nonsynonymous single-base nucleotide polymorphism (nsSNP) in a gene affects its protein product and, consequently, i...

2002 Genome Research 700 citations

<i>Stacks</i>: Building and Genotyping Loci <i>De Novo</i> From Short-Read Sequences

Julian Catchen , Angel Amores , Paul A. Hohenlohe +2 more

Abstract Advances in sequencing technology provide special opportunities for genotyping individuals with speed and thrift, but the lack of software to automate the calling of te...

2011 G3 Genes Genomes Genetics 1966 citations

Publication Info

Year: 2011
Type: review
Volume: 12
Issue: 6
Pages: 443-451
Citations: 1461
Access: Closed

External Links

View on DOI.org

Social Impact

Altmetric

Genotype and SNP calling from next-generation sequencing data

PlumX Metrics

Social media, news, blog, policy document mentions

Citation Metrics

1461

OpenAlex

Cite This

APA Style

                            
                                
                                    Rasmus Nielsen, 
                                
                                    Joshua Paul, 
                                
                                    Anders Albrechtsen
                                
                                et al.
                            
                            (2011). 
                            Genotype and SNP calling from next-generation sequencing data. 
                            Nature Reviews Genetics
                            , 12
                            (6)
                            , 443-451.
                            https://doi.org/10.1038/nrg2986
                        

Identifiers

DOI: 10.1038/nrg2986