Genome-wide association studies (GWASs) have enabled robust mapping of complex traits in humans. The open sharing of GWAS summary statistics (SumStats) is essential in facilitating the larger meta-analyses needed for increased power in resolving the genetic basis of disease. However, most GWAS SumStats are not readily accessible because of limited sharing and a lack of defined standards. With the aim of increasing the availability, quality, and utility of GWAS SumStats, the National Human Genome Research Institute-European Bioinformatics Institute (NHGRI-EBI) GWAS Catalog organized a community workshop to address the standards, infrastructure, and incentives required to promote and enable sharing. We evaluated the barriers to SumStats sharing, both technological and sociological, and developed an action plan to address those challenges and ensure that SumStats and study metadata are findable, accessible, interoperable, and reusable (FAIR). We encourage early deposition of datasets in the GWAS Catalog as the recognized central repository. We recommend standard requirements for reporting elements and formats for SumStats and accompanying metadata as guidelines for community standards and a basis for submission to the GWAS Catalog. Finally, we provide recommendations to enable, promote, and incentivize broader data sharing, standards and FAIRness in order to advance genomic medicine.
Download full-text PDF |
Source |
---|---|
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC9451133 | PMC |
http://dx.doi.org/10.1016/j.xgen.2021.100004 | DOI Listing |
Lipids
January 2025
Department of Laboratory Medicine, Peoples Hospital of Deyang City, Deyang, China.
Lipid-lowering drugs have been used in clinics widely. It is unclear whether the drugs have an effect on renal failure. We chose high-density lipoprotein cholesterol (ieu-b-109), low-density lipoprotein cholesterol (ieu-a-300), triglyceride (ieu-b-111), and total cholesterol (ebi-a-GCST90038690) as exposures.
View Article and Find Full Text PDFSchizophrenia (Heidelb)
January 2025
Suzhou Guangji Hospital, Suzhou, Jiangsu Province; Affiliated Guangji Hospital of Soochow University, Suzhou, Jiangsu Province, China.
Numerous observational studies have highlighted associations between mitochondrial dysfunction and schizophrenia (SCZ), yet the causal relationship remains elusive. This study aims to elucidate the causal link between mitochondria-associated proteins and SCZ. We used summary data from a genome-wide association study (GWAS) of 66 mitochondria-associated proteins in 3,301 individuals from Europe, as well as a GWAS on the large, multi-ethnic ancestry of SCZ, involving 76,755 cases and 243,649 controls.
View Article and Find Full Text PDFMicroorganisms
January 2025
Department of Radiation Oncology, The First Clinical Medical College, Nanjing Medical University, Nanjing 210029, China.
Radiation-induced skin toxicity, resulting from ionizing or nonionizing radiation, is a common skin disorder. However, the underlying relationship between skin microbiota and radiation-induced skin toxicity remains largely unexplored. Herein, we uncover the microbiota-skin interaction based on a genome-wide association study (GWAS) featuring 150 skin microbiota and three types of skin microenvironment.
View Article and Find Full Text PDFBMC Genomics
January 2025
International Institute of Molecular and Cell Biology in Warsaw, Laboratory of Zebrafish Developmental Genomics, Księcia Trojdena 4, Warsaw, 02-109, Poland.
Congenital heart disease (CHD) is a prevalent condition characterized by defective heart development, causing premature death and stillbirths among infants. Genome-wide association studies (GWASs) have provided insights into the role of genetic variants in CHD pathogenesis through the identification of a comprehensive set of single-nucleotide polymorphisms (SNPs). Notably, 90-95% of these variants reside in the noncoding genome, complicating the understanding of their underlying mechanisms.
View Article and Find Full Text PDFFront Mol Biosci
January 2025
Department of Clinical Laboratory, The First People's Hospital of Lianyungang, The Affiliated Lianyungang Hospital of Xuzhou Medical University, The First Affiliated Hospital of Kangda College of Nanjing Medical University, Lianyungang, Jiangsu, China.
Background: Prostate cancer (PCa), the most prevalent malignant neoplasm in males, involves complex biological mechanisms and risk factors, many of which remain unidentified. By employing a novel two-sample Mendelian randomization (MR) approach, this study aims to elucidate the causal relationships between the circulating metabolome and PCa risk, utilizing comprehensive data on genetically determined plasma metabolites and metabolite ratios.
Methods: For the MR analysis, we utilized data from the GWAS Catalog database to analyze 1,091 plasma metabolites and 309 ratios in relation to PCa outcomes within two independent GWAS datasets.
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!