Title
ngsTools: methods for population genetics analyses from next-generation sequencing data.
Abstract
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.
Year
DOI
Venue
2014
10.1093/bioinformatics/btu041
BIOINFORMATICS
Field
DocType
Volume
Genome,Genotype,Deep sequencing,Computer science,Population genetics,Sampling (statistics),Single-nucleotide polymorphism,DNA sequencing,Bioinformatics,Reference genome
Journal
30
Issue
ISSN
Citations 
10
1367-4803
2
PageRank 
References 
Authors
0.48
0
4
Name
Order
Citations
PageRank
Matteo Fumagalli1869.11
Filipe G Vieira262.03
Tyler Linderoth320.48
Rasmus Nielsen4162.80