دورية أكاديمية
Sequencing-based genome-wide association studies reporting standards
العنوان: | Sequencing-based genome-wide association studies reporting standards |
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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 |
تدمد: | 2666979X |
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DOI: | 10.1016/j.xgen.2021.100005 |