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Five Years of GWAS Discovery [PDF]
The American Journal of Human Genetics, 2012 The past five years have seen many scientific and biological discoveries made through the experimental design of genome-wide association studies (GWASs). These studies were aimed at detecting variants at genomic loci that are associated with complex traits in the population and, in particular, at detecting associations between common single-nucleotide ...
Visscher, P +5 more
semanticscholar +9 more sources
BTOB: Extending the Biased GWAS to Bivariate GWAS [PDF]
Frontiers in Genetics, 2021 In recent years, a number of literatures published large-scale genome-wide association studies (GWASs) for human diseases or traits while adjusting for other heritable covariate. However, it is known that these GWASs are biased, which may lead to biased genetic estimates or even false positives.
Zhu, Junxian +4 more
openaire +4 more sources
The NHGRI-EBI GWAS Catalog: knowledgebase and deposition resource
Nucleic Acids Res., 2022 The NHGRI-EBI GWAS Catalog (www.ebi.ac.uk/gwas) is a FAIR knowledgebase providing detailed, structured, standardised and interoperable genome-wide association study (GWAS) data to >200 000 users per year from academic research, healthcare and industry ...
E. Sollis +29 more
semanticscholar +1 more source
Clinical Journal of the American Society of Nephrology, 2022 Background and objectives Glomerular hematuria has varied causes but can have a genetic basis, including Alport syndrome and IgA nephropathy. Design, setting, participants, & measurements We used summary statistics to identify genetic variants associated with hematuria in White ...
Sarah A. Gagliano Taliun +6 more
openaire +2 more sources
HAPPI GWAS: Holistic Analysis with Pre and Post Integration GWAS [PDF]
Bioinformatics, 2020 AbstractMotivationAdvanced publicly available sequencing data from large populations have enabled in-formative genome-wide association studies (GWAS) that associate SNPs with phenotypic traits of interest. Many publicly available tools able to perform GWAS have been developed in response to increased demand.
Marianne L Slaten +4 more
openaire +5 more sources
Discovery of target genes and pathways at GWAS loci by pooled single-cell CRISPR screens
Science, 2023 Most variants associated with complex traits and diseases identified by genome-wide association studies (GWAS) map to noncoding regions of the genome with unknown effects.
John A. Morris +15 more
semanticscholar +1 more source
BMC Genomics, 2014 Genome wide association studies (GWAS) have revealed a large number of links between genome variation and complex disease. Among other benefits, it is expected that these insights will lead to new therapeutic strategies, particularly the identification of new drug targets.
Cao, Chen, Moult, John
openaire +4 more sources
Diabetes Care, 2023 OBJECTIVE Depression is a common comorbidity of type 2 diabetes. We assessed the causal relationships and shared genetics between them. RESEARCH DESIGN AND METHODS We applied two-sample, bidirectional Mendelian randomization (MR) to assess causality ...
Jared G. Maina +10 more
semanticscholar +1 more source
Exploration of Medicine, 2021 Aim: Substance use disorders (SUD) result in substantial morbidity and mortality worldwide. Opioids, and to a lesser extent cocaine, contribute to a large percentage of this health burden.
Richard Sherva +11 more
doaj +1 more source
Genome-wide association study (GWAS) of high productivity classes in the Karachaevsky sheep breed [PDF]
Journal of Central European Agriculture, 2021 Using the Illumina Ovine Infinium HD BeadChip 600K DNA array, we performed a genome-wide association study (GWAS) in Karachaevsky breed sheep with different class evaluations (elite and super-elite).
Alexander Krivoruchko +3 more
doaj +1 more source