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SNPGenie: estimating evolutionary parameters to detect natural selection using pooled next-generation sequencing data
Author(s) -
Chase W. Nelson,
Louise H. Moncla,
Austin L. Hughes
Publication year - 2015
Publication title -
bioinformatics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 3.599
H-Index - 390
eISSN - 1367-4811
pISSN - 1367-4803
DOI - 10.1093/bioinformatics/btv449
Subject(s) - perl , biology , single nucleotide polymorphism , selection (genetic algorithm) , nonsynonymous substitution , nucleotide diversity , genetics , population , dna sequencing , computational biology , genome , gene , computer science , artificial intelligence , genotype , haplotype , world wide web , demography , sociology
New applications of next-generation sequencing technologies use pools of DNA from multiple individuals to estimate population genetic parameters. However, no publicly available tools exist to analyse single-nucleotide polymorphism (SNP) calling results directly for evolutionary parameters important in detecting natural selection, including nucleotide diversity and gene diversity. We have developed SNPGenie to fill this gap. The user submits a FASTA reference sequence(s), a Gene Transfer Format (.GTF) file with CDS information and a SNP report(s) in an increasing selection of formats. The program estimates nucleotide diversity, distance from the reference and gene diversity. Sites are flagged for multiple overlapping reading frames, and are categorized by polymorphism type: nonsynonymous, synonymous, or ambiguous. The results allow single nucleotide, single codon, sliding window, whole gene and whole genome/population analyses that aid in the detection of positive and purifying natural selection in the source population.

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