Fort Alexandre, Panousis Nikolaos I, Garieri Marco, Antonarakis Stylianos E, Lappalainen Tuuli, Dermitzakis Emmanouil T, Delaneau Olivier
Department of Genetic Medicine and Development, University of Geneva Medical School, Geneva, Switzerland.
Swiss Institute of Bioinformatics, Lausanne, Switzerland.
Bioinformatics. 2017 Jun 15;33(12):1895-1897. doi: 10.1093/bioinformatics/btx074.
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.
用于诸如表达数量性状基因座（eQTL）检测等结合基因型和序列数据的大型基因组数据集，要求两种数据类型之间完美匹配。
我们在此描述了MBV（将BAM与VCF匹配）；一种快速解决样本错误标记、检测跨样本污染和PCR扩增偏差的方法。
MBV用C++实现，作为QTLtools软件包的一个独立组件，二进制文件和源代码可在https://qtltools.github.io/qtltools/ 免费获取。
olivier.delaneau@unige.ch 或 emmanouil.dermitzakis@unige.ch。
补充数据可在《生物信息学》在线获取。
