Bioinformatics · 2014 · 277 citations · 4 references
Life SciencesBioinformaticsGeneticsGenome AssemblyGenomicsPopulation GeneticsDna SequencingNext-generation SequencingPopulation Genetics InferencePopulation GenomicsRead MappingVariant CallingGenotype Uncertainty ModelingInference With Sequencing DataRandom SamplingReference Genome MappingSingle-nucleotide Polymorphism AnalysisSingle-nucleotide PolymorphismsStatistical Uncertainty AnalysisStatistical Uncertainty Estimation
SUMMARY: 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. , 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. AVAILABILITY: Programs included in ngsTools are implemented in C/C++ and are freely available for noncommercial use at https://github.com/mfumagalli/ngsTools. CONTACT: mfumagalli82@gmail.com SUPPLEMENTARY INFORMATION: Supplementary materials are available at Bioinformatics online.
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A map of rice genome variation reveals the origin of cultivated rice
Xuehui Huang, Nori Kurata, Xinghua Wei et al. · Nature · 2012 · 1.7K citations · Full text
Quantifying Population Genetic Differentiation from Next-Generation Sequencing Data
Matteo Fumagalli, Filipe Garrett Vieira, Thorfinn Sand Korneliussen et al. · Genetics · 2013 · 225 citations · Full text
Life Sciences, Biology, Genetics +16