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GRIEVOUS: your command-line general for resolving cross-dataset genotype inconsistencies.
Talwar, James V; Klie, Adam; Pagadala, Meghana S; Carter, Hannah.
Afiliação
  • Talwar JV; Division of Medical Genetics, Department of Medicine, University of California San Diego, La Jolla, CA 92093, United States.
  • Klie A; Bioinformatics and Systems Biology Program, University of California San Diego, La Jolla, CA 92093, United States.
  • Pagadala MS; Division of Medical Genetics, Department of Medicine, University of California San Diego, La Jolla, CA 92093, United States.
  • Carter H; Bioinformatics and Systems Biology Program, University of California San Diego, La Jolla, CA 92093, United States.
Bioinformatics ; 40(8)2024 08 02.
Article em En | MEDLINE | ID: mdl-39078222
ABSTRACT

SUMMARY:

Harmonizing variant indexing and allele assignments across datasets is crucial for data integrity in cross-dataset studies such as multi-cohort genome-wide association studies, meta-analyses, and the development, validation, and application of polygenic risk scores. Ensuring this indexing and allele consistency is a laborious, time-consuming, and error-prone process requiring a certain degree of computational proficiency. Here, we introduce GRIEVOUS, a command-line tool for cross-dataset variant homogenization. By means of an internal database and a custom indexing methodology, GRIEVOUS identifies, formats, and aligns all biallelic single nucleotide polymorphisms (SNPs) across all summary statistic and genotype files of interest. Upon completion of dataset harmonization, GRIEVOUS can also be used to extract the maximal set of biallelic SNPs common to all datasets. AVAILABILITY AND IMPLEMENTATION GRIEVOUS and all supporting documentation and tutorials can be found at https//github.com/jvtalwar/GRIEVOUS. It is freely and publicly available under the MIT license and can be installed via pip.
Assuntos

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Software / Polimorfismo de Nucleotídeo Único / Estudo de Associação Genômica Ampla / Genótipo Idioma: En Ano de publicação: 2024 Tipo de documento: Article

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Software / Polimorfismo de Nucleotídeo Único / Estudo de Associação Genômica Ampla / Genótipo Idioma: En Ano de publicação: 2024 Tipo de documento: Article