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Cited by 2,982Genomics and Phylogenetic StudiesGenetic diversity and population structureGenetic Associations and Epidemiology

The DOI matches its Crossref record; 35 of the 36 references it cites were found in a registry or an index.

ANGSD: Analysis of Next Generation Sequencing Data

Open access
Korneliussen, Thorfinn Sand, Albrechtsen, Anders, Nielsen, Rasmus·2014·BMC Bioinformatics
DOI 10.1186/s12859-014-0356-4PMC PMC4248462
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Abstract

BACKGROUND: High-throughput DNA sequencing technologies are generating vast amounts of data. Fast, flexible and memory efficient implementations are needed in order to facilitate analyses of thousands of samples simultaneously. RESULTS: We present a multithreaded program suite called ANGSD. This program can calculate various summary statistics, and perform association mapping and population genetic analyses utilizing the full information in next generation sequencing data by working directly on the raw sequencing data or by using genotype likelihoods. CONCLUSIONS: The open source c/c++ program ANGSD is available at http://www.popgen.dk/angsd . The program is tested and validated on GNU/Linux systems. The program facilitates multiple input formats including BAM and imputed beagle genotype probability files. The program allow the user to choose between combinations of existing methods and can perform analysis that is not implemented elsewhere.

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Figure 1 Data formats and call graph. A) Dependency of different data formats and analyses that can be performed in ANGSD. B) Simplified call graph. Red nodes indicate areas that are not threaded. With the exception of file readers, all analyses, printing and cleaning is done by objects derived from the abstract base class called general.
Figure 1 Data formats and call graph. A) Dependency of different data formats and analyses that can be performed in ANGSD. B) Simplified call graph. Red nodes indicate areas that are not threaded. With the exception of file readers, all analyses, printing and cleaning is done by objects derived from the abstract base class called general.CC BY · PubMed Central
Figure 2 1D SFS for different GL models. SFS estimation based on a 170 megabase region from chromosome 1 using 12 CEU samples A) and 14 YRI samples B)” from the 1000 genomes project. The analysis was performed for both the GATK GL model (green, light brown) and SAMtools GL (yellow,dark brown). Notice the difference in estimated variability (proportion of variable sites) for the two GL models, with GATK GL based analyses inferring more variable sites and an associated larger proportion of low-frequency alleles. The two categories of invariable sites have been removed and the distributions have been normalized so that the frequencies of all categories sum to one for each method.
Figure 2 1D SFS for different GL models. SFS estimation based on a 170 megabase region from chromosome 1 using 12 CEU samples A) and 14 YRI samples B)” from the 1000 genomes project. The analysis was performed for both the GATK GL model (green, light brown) and SAMtools GL (yellow,dark brown). Notice the difference in estimated variability (proportion of variable sites) for the two GL models, with GATK GL based analyses inferring more variable sites and an associated larger proportion of low-frequency alleles. The two categories of invariable sites have been removed and the distributions have been normalized so that the frequencies of all categories sum to one for each method.CC BY · PubMed Central
Figure 3 Joint SFS (2D-SFS). Two dimensional SFS estimation based on a 170 megabase region from chromosome 1 using 12 CEU samples and 14 YRI samples from the 1000 genomes project.
Figure 3 Joint SFS (2D-SFS). Two dimensional SFS estimation based on a 170 megabase region from chromosome 1 using 12 CEU samples and 14 YRI samples from the 1000 genomes project.CC BY · PubMed Central
Figure 4 Overlap between inferred SNPs with a critical p-value threshold of 10 −6 and not using BAQ. Venn diagram of the overlap between the SNP discovery for ANGSD, GATK and SAMtools for 33 CEU samples for chromosome 1. We used default parameters with GATK for SAMtools we discarded reads with a mapping quality below 10. For ANGSD we choose an p-value threshold of 10−6 and didn’t enable BAQ. In A, we used the SAMtools genotype likelihood model in ANGSD, in B we used the GATK model in ANGSD.
Figure 4 Overlap between inferred SNPs with a critical p-value threshold of 10 −6 and not using BAQ. Venn diagram of the overlap between the SNP discovery for ANGSD, GATK and SAMtools for 33 CEU samples for chromosome 1. We used default parameters with GATK for SAMtools we discarded reads with a mapping quality below 10. For ANGSD we choose an p-value threshold of 10−6 and didn’t enable BAQ. In A, we used the SAMtools genotype likelihood model in ANGSD, in B we used the GATK model in ANGSD.CC BY · PubMed Central
Figure 5 Error rate vs call rate for called genotypes. Error rate and call rates for genotype calls based on different methods. The error rate is defined as the discordance rate between HapMap genotype calls compared to the same individuals sequenced in the 1000 genomes. Genotype where called for all sites for all individuals for all methods. Each genotype call has a score which was used to determine the call rate. Due to the discrete nature of some of the genotype scores we obtain a jagged curve.
Figure 5 Error rate vs call rate for called genotypes. Error rate and call rates for genotype calls based on different methods. The error rate is defined as the discordance rate between HapMap genotype calls compared to the same individuals sequenced in the 1000 genomes. Genotype where called for all sites for all individuals for all methods. Each genotype call has a score which was used to determine the call rate. Due to the discrete nature of some of the genotype scores we obtain a jagged curve.CC BY · PubMed Central

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Research works printed but not linked: 1

  1. Li H, Durbin R: Fast and accurate short read alignment with Burrows-Wheeler transform . Bioinformatics. 2009, 25: 1754-1760. 10.1093/bioinformatics/btp324. · DOI · Paper page

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Metadata

Authors
Korneliussen, T. S., Albrechtsen, A., & Nielsen, R.
Affiliations
  • Natural History Museum of Denmark (DK)
  • University of Copenhagen (DK)
Corresponding author
Korneliussen, Thorfinn Sand
ORCID
Venue
BMC Bioinformatics
Publisher
Springer Science and Business Media LLC
Published
2014-11-25
Volume
15
Issue
1
Pages
356-356
ISSN
1471-2105 (ISSN-L)
DOI
10.1186/s12859-014-0356-4
PMC
PMC4248462
OpenAlex
W2129034036
Cited by
2,982
References
36
Citations by year
2026: 332 · 2025: 419 · 2024: 401 · 2023: 335 · 2022: 356 · 2021: 364 · 2020: 233 · 2019: 188 · 2018: 143 · 2017: 97 · 2016: 74 · 2015: 28 · 2014: 2
FWCI
27.45
Type
journal article
Language
en
Open access
Licence
Locations
  • BMC Bioinformatics (publishedVersion, cc-by)
  • Europe PMC (PubMed Central) (publishedVersion, cc-by)
  • PubMed Central (publishedVersion, cc-by)
  • PubMed (publishedVersion)
  • Research at the University of Copenhagen (University of Copenhagen) (publishedVersion, cc-by)
  • eScholarship (California Digital Library) (submittedVersion)
  • eScholarship (California Digital Library) (submittedVersion, cc-by)
Funders
  • Villum Fonden (00007171)
  • National Research Foundation
  • Danmarks Grundforskningsfond (DNRF94)
  • National Institutes of Health (2R14003229, 2R14003229-07)
  • U.S. Public Health Service (2R14003229-07)
Topics
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Genomics and Phylogenetic Studies
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic diversity and population structure
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic Associations and Epidemiology
Keywords
next-generation sequencing data analysis, association mapping, population genetics, genotype likelihoods, multithreaded programs, summary statistics, BAM files, imputed genotypes
MeSH terms
Gene Frequency, Genetics, Population, Genotype, Software, Likelihood Functions, Polymorphism, Single Nucleotide, High-Throughput Nucleotide Sequencing

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