MBV: a method to solve sample mislabeling and detect technical bias in large combined genotype and sequencing assay datasets.
other · Level V
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- Record sourced from PubMed, PMID 28186259.
- Also identified by DOI 10.1093/bioinformatics/btx074 and PMC identifier 6044394.
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Abstract
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. 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 data are available at Bioinformatics online.
Medical subject headings
- Genotyping Techniques
- Quantitative Trait Loci
- Sequence Analysis, DNA
- Software