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Sequencing-based genome-wide association studies reporting standards

التفاصيل البيبلوغرافية
العنوان: Sequencing-based genome-wide association studies reporting standards
المؤلفون: Aoife McMahon, Elizabeth Lewis, Annalisa Buniello, Maria Cerezo, Peggy Hall, Elliot Sollis, Helen Parkinson, Lucia A. Hindorff, Laura W. Harris, Jacqueline A.L. MacArthur
المصدر: Cell Genomics, Vol 1, Iss 1, Pp 100005- (2021)
بيانات النشر: Elsevier, 2021.
سنة النشر: 2021
المجموعة: LCC:Genetics
LCC:Internal medicine
مصطلحات موضوعية: GWAS, genome-wide association study, seqGWAS, sequencing-based GWAS, rare variant association, WGS, Genetics, QH426-470, Internal medicine, RC31-1245
الوصف: Summary: Genome sequencing has recently become a viable genotyping technology for use in genome-wide association studies (GWASs), offering the potential to analyze a broader range of genome-wide variation, including rare variants. To survey current standards, we assessed the content and quality of reporting of statistical methods, analyses, results, and datasets in 167 exome- or genome-wide-sequencing-based GWAS publications published from 2014 to 2020; 81% of publications included tests of aggregate association across multiple variants, with multiple test models frequently used. We observed a lack of standardized terms and incomplete reporting of datasets, particularly for variants analyzed in aggregate tests. We also find a lower frequency of sharing of summary statistics compared with array-based GWASs. Reporting standards and increased data sharing are required to ensure sequencing-based association study data are findable, interoperable, accessible, and reusable (FAIR). To support that, we recommend adopting the standard terminology of sequencing-based GWAS (seqGWAS). Further, we recommend that single-variant analyses be reported following the same standards and conventions as standard array-based GWASs and be shared in the GWAS Catalog. We also provide initial recommended standards for aggregate analyses metadata and summary statistics.
نوع الوثيقة: article
وصف الملف: electronic resource
اللغة: English
تدمد: 2666-979X
Relation: http://www.sciencedirect.com/science/article/pii/S2666979X21000057; https://doaj.org/toc/2666-979X
DOI: 10.1016/j.xgen.2021.100005
URL الوصول: https://doaj.org/article/3adcd0fc3e984f08927291aab2224c55
رقم الأكسشن: edsdoj.3adcd0fc3e984f08927291aab2224c55
قاعدة البيانات: Directory of Open Access Journals
الوصف
تدمد:2666979X
DOI:10.1016/j.xgen.2021.100005