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Journal Article

snpAD: An ancient DNA genotype caller


Prüfer,  Kay
Genomes, Department of Evolutionary Genetics, Max Planck Institute for Evolutionary Anthropology, Max Planck Society;

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Prüfer, K. (2018). snpAD: An ancient DNA genotype caller. Bioinformatics, 34(24), 4165-4171. doi:10.1093/bioinformatics/bty507.

Cite as: http://hdl.handle.net/21.11116/0000-0001-DD61-9
Motivation: The study of ancient genomes can elucidate the evolutionary past. However, analyses are complicated by base-modifications in ancient DNA molecules that result in errors in DNA sequences. These errors are particularly common near the ends of sequences and pose a challenge for genotype calling. Results: I describe an iterative method that estimates genotype frequencies and errors along sequences to allow for accurate genotype calling from ancient sequences. The implementation of this method, called snpAD, performs well on high-coverage ancient data, as shown by simulations and by subsampling the data of a high-coverage Neandertal genome. Although estimates for low-coverage genomes are less accurate, I am able to derive approximate estimates of heterozygosity from several low-coverage Neandertals. These estimates show that low heterozygosity, compared to modern humans, was common among Neandertals. Availability and implementation: The C++ code of snpAD is freely available at http://bioinf.eva.mpg.de/snpAD/. Supplementary information: Supplementary data are available at Bioinformatics online.