MBV: a method to solve sample mislabeling and detect technical bias in large combined genotype and sequencing assay datasets


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Abstract

Motivation:Large genomic datasets combining genotype and sequence data, such as for expression quantitative trait loci (eQTL) detection, require perfect matching between both data types.Results:We described here MBV (Match BAM to VCF); a method to quickly solve sample mislabeling and detect cross-sample contamination and PCR amplification bias.Availability and Implementation:MBV is implemented in C ++ as an independent component of the QTLtools software package, the binary and source codes are freely available at https://qtltools.github.io/qtltools/.Contact:olivier.delaneau@unige.ch or emmanouil.dermitzakis@unige.chSupplementary information:Supplementary data are available at Bioinformatics online.

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