MBV：一种解决样本错误标记并检测大型组合基因型和测序分析数据集中技术偏差的方法。
MBV: a method to solve sample mislabeling and detect technical bias in large combined genotype and sequencing assay datasets.
作者信息
Fort Alexandre, Panousis Nikolaos I, Garieri Marco, Antonarakis Stylianos E, Lappalainen Tuuli, Dermitzakis Emmanouil T, Delaneau Olivier
机构信息
Department of Genetic Medicine and Development, University of Geneva Medical School, Geneva, Switzerland.
Swiss Institute of Bioinformatics, Lausanne, Switzerland.
出版信息
Bioinformatics. 2017 Jun 15;33(12):1895-1897. doi: 10.1093/bioinformatics/btx074.
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
olivier.delaneau@unige.ch or emmanouil.dermitzakis@unige.ch.
SUPPLEMENTARY INFORMATION
Supplementary data are available at Bioinformatics online.
摘要
动机
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。
结果
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。
可用性与实现方式
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。
联系方式
olivier.delaneau@unige.ch 或 emmanouil.dermitzakis@unige.ch。
补充信息
补充数据可在《生物信息学》在线获取。
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