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MungeSumstats: a Bioconductor package for the standardization and quality control of many GWAS summary statistics.
Murphy, Alan E; Schilder, Brian M; Skene, Nathan G.
Afiliação
  • Murphy AE; UK Dementia Research Institute at Imperial College London, London W12 0BZ, UK.
  • Schilder BM; Department of Brain Sciences, Imperial College London, London W12 0BZ, UK.
  • Skene NG; UK Dementia Research Institute at Imperial College London, London W12 0BZ, UK.
Bioinformatics ; 37(23): 4593-4596, 2021 12 07.
Article em En | MEDLINE | ID: mdl-34601555
ABSTRACT
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.
Assuntos

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Software / Estudo de Associação Genômica Ampla Idioma: En Ano de publicação: 2021 Tipo de documento: Article

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Software / Estudo de Associação Genômica Ampla Idioma: En Ano de publicação: 2021 Tipo de documento: Article