pibase is a command-line tool to validate single nucleotide polymorphism (SNP) in diploid and haploid genomes, exome data, and in targeted enrichment data. The pibase algorithm works by extracting features at specified coordinates in alignment files and identifies reproducible genotypes.
DNA polymorphism; Comparative genomics; Phylogenetics
Forster M, Forster P, Elsharawy A, Hemmrich G, Kreck B, Wittig M, Thomsen I, Stade B, Barann M, Ellinghaus D, Petersen BS, May S, Melum E, Schilhabel MB, Keller A, Schreiber S, Rosenstiel P, Franke A "From next-generation sequencing alignments to accurate comparison and validation of single-nucleotide variants: the pibase software." Nucleic Acids Res. 2013 Jan 7;41(1):e16. https://doi.org/10.1093/nar/gks836
PMID: 22965131
PMCID: PMC3592472
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