Unknown

Dataset Information

0

Sequencing-based genome-wide association studies reporting standards.


ABSTRACT: 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.

SUBMITTER: McMahon A 

PROVIDER: S-EPMC8637874 | biostudies-literature |

REPOSITORIES: biostudies-literature

Similar Datasets

| S-EPMC3856324 | biostudies-literature
| S-EPMC5688105 | biostudies-literature
| S-EPMC4489336 | biostudies-other
| S-EPMC4325556 | biostudies-other
| S-EPMC5421438 | biostudies-literature
| S-EPMC2858789 | biostudies-other
| S-EPMC8304276 | biostudies-literature
| S-EPMC2795904 | biostudies-literature
| S-EPMC5432979 | biostudies-literature
| S-EPMC5007749 | biostudies-other