ngsTools: methods for population genetics analyses from next-generation sequencing data

被引:188
作者
Fumagalli, Matteo [1 ]
Vieira, Filipe G. [1 ]
Linderoth, Tyler [1 ]
Nielsen, Rasmus [1 ,2 ,3 ]
机构
[1] Univ Calif Berkeley, Dept Integrat Biol, Berkeley, CA 94720 USA
[2] Univ Calif Berkeley, Dept Stat, Berkeley, CA 94720 USA
[3] Univ Copenhagen, Dept Biol, DK-2200 Copenhagen, Denmark
关键词
D O I
10.1093/bioinformatics/btu041
中图分类号
Q5 [生物化学];
学科分类号
071010 ; 081704 ;
摘要
Next-generation sequencing technologies produce short reads that are either de novo assembled or mapped to a reference genome. Genotypes and/or single-nucleotide polymorphisms are then determined from the read composition at each site, which become the basis for many downstream analyses. However, for low sequencing depths, e.g. < 10x, there is considerable statistical uncertainty in the assignment of genotypes because of random sampling of homologous base pairs in heterozygotes and sequencing or alignment errors. Recently, several probabilistic methods have been proposed to account for this uncertainty and make accurate inferences from low quality and/or coverage sequencing data. We present ngsTools, a collection of programs to perform population genetics analyses from next-generation sequencing data. The methods implemented in these programs do not rely on single-nucleotide polymorphism or genotype calling and are particularly suitable for low sequencing depth data.
引用
收藏
页码:1486 / 1487
页数:2
相关论文
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