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

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Large genomic datasets combining genotype and sequence data, such as for expression quantitative trait loci (eQTL) detection, require perfect matching between both data types.


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/.


olivier.delaneau@unige.ch or emmanouil.dermitzakis@unige.ch

Supplementary information:

Supplementary data are available at Bioinformatics online.

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