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Candidate Gene Testing in Clinical Cohort Studies with Multiplexed Genotyping and Mass Spectrometry
Published on: June 21, 2018
MBV: a method to solve sample mislabeling and detect technical bias in large combined genotype and sequencing assay
Alexandre Fort1, Nikolaos I Panousis1,2,3, Marco Garieri1,2,3
1Department of Genetic Medicine and Development, University of Geneva Medical School, Geneva, Switzerland.
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.ch.
Supplementary Information:
Supplementary data are available at Bioinformatics online.
