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

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

[e-mail] or [e-mail].

Supplementary information

Supplementary data are available at Bioinformatics online.

SUBMITTER: Fort A 

PROVIDER: S-EPMC6044394 | biostudies-literature | 2017 Jun

REPOSITORIES: biostudies-literature