PreprintCited by 114

The DOI matches its Crossref record; 6 of the 6 references it cites were found in a registry or an index.

ATLAS: Analysis Tools for Low-depth and Ancient Samples

Link, Vivian, Kousathanas, Athanasios, Veeramah, Krishna, Sell, Christian, Scheu, Amelie, Wegmann, Daniel·2017

Abstract

Summary: Post-mortem damage (PMD) obstructs the proper analysis of ancient DNA samples and can currently only be addressed by removing or down-weighting potentially damaged data. Here we present ATLAS, a suite of methods to accurately genotype and estimate genetic diversity from ancient samples, while accounting for PMD. It works directly from raw BAM files and enables the building of complete and customized pipelines for the analysis of ancient and other low-depth samples in a very user-friendly way. Based on simulations we show that, in the presence of PMD, a dedicated pipeline of ATLAS calls genotypes more accurately than the state-of-the-art pipeline of GATK combined with mapDamage 2.0. Availability: ATLAS is an open-source C++ program freely available at https://bitbucket.org/phaentu/atlas . Contact: Daniel.Wegmann@unifr.ch Supplementary information: Supplementary data are available at Bioinformatics online .

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Fig. 1 A) Fraction of alleles not (dashed) or wrongly (solid) called at sites with sequencing depth >0 in a simulated chromosome of 10Mbp. The calls are classified according to the underlying true genotype (Ref=reference allele, Alt=alternative allele). B) Fraction of alleles that were not correctly called (either no or a wrong call) with a sequencing depth >0.
Fig. 1 A) Fraction of alleles not (dashed) or wrongly (solid) called at sites with sequencing depth >0 in a simulated chromosome of 10Mbp. The calls are classified according to the underlying true genotype (Ref=reference allele, Alt=alternative allele). B) Fraction of alleles that were not correctly called (either no or a wrong call) with a sequencing depth >0.CC-BY-NC · From the PDF
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Research works printed but not linked: 9

  1. 10.1093/sysbio/syr100 · DOI
  2. 10.1093/bioinformatics/btr174 · DOI
  3. Briggs, A. and Stenzel, U. (2007). Patterns of damage in genomic DNA sequences from a Neandertal. Proc. Natl Acad. Sci. USA, 104, 14616–14621. · DOI · Paper page
  4. 10.1093/nar/gkp829 · DOI
  5. 10.1038/ng.806 · DOI
  6. 10.1038/srep17875 · DOI
  7. 10.1534/genetics.116.189985 · DOI
  8. 10.1093/bioinformatics/btp352 · DOI · Paper page
  9. 10.1038/nprot.2014.063 · DOI · Paper page

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Metadata

Authors
Link, V., Kousathanas, A., Veeramah, K., Sell, C., Scheu, A., & Wegmann, D.
Publisher
openRxiv
Published
2017-02-02
Cited by
114
References
6
Type
Preprint

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