生物导体
标准化
计算机科学
统计的
汇总统计
全基因组关联研究
文件格式
计算统计学
数据挖掘
R包
质量(理念)
数据文件
情报检索
统计
数据库
程序设计语言
操作系统
生物
数学
机器学习
基因
哲学
单核苷酸多态性
认识论
生物化学
基因型
作者
Alan E Murphy,Brian M. Schilder,Nathan Skene
出处
期刊:Bioinformatics
[Oxford University Press]
日期:2021-09-30
卷期号:37 (23): 4593-4596
被引量:139
标识
DOI:10.1093/bioinformatics/btab665
摘要
MOTIVATION: Genome-wide association studies (GWAS) summary statistics have popularized and accelerated genetic research. However, a lack of standardization of the file formats used has proven problematic when running secondary analysis tools or performing meta-analysis studies. RESULTS: To address this issue, we have developed MungeSumstats, a Bioconductor R package for the standardization and quality control of GWAS summary statistics. MungeSumstats can handle the most common summary statistic formats, including variant call format (VCF) producing a reformatted, standardized, tabular summary statistic file, VCF or R native data object. AVAILABILITY AND IMPLEMENTATION: MungeSumstats is available on Bioconductor (v 3.13) and can also be found on Github at: https://neurogenomics.github.io/MungeSumstats. SUPPLEMENTARY INFORMATION: Supplementary data are available at Bioinformatics online.
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