rs114328297 - BARHL2 - LINC02609

Magnitude 2.2 · 2 studies on file

Reported associations

  • Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program - Unknown journal (n.d.) · Unknown authors · PubMed 39024449

    ABSTRACT: INTRODUCTION: Findings from genome-wide association studies (GWASs) have provided foundational knowledge of the genetic basis of disease, facilitating precision approaches for prevention and treatment. Current GWAS results are limited by underrepresentation of individuals from diverse populations, leading to concerns with generalizability regarding our knowledge of the relationships between genes, traits, and disease. The Department of Veterans Affairs (VA) Million Veteran Program (MVP), one of the largest US-based biobanks, addresses this need; 29% of MVP comprises individuals genetically similar to African (AFR), Admixed American (AMR), and East Asian (EAS) reference populations. With over 635,000 participants and more than 44.3M genotyped variants linked with detailed phenotyp

  • Genetic analyses identify widespread sex-differential participation bias - Unknown journal (n.d.) · Unknown authors · PubMed 33888908

    ABSTRACT: Genetic association results are often interpreted with the assumption that study participation does not affect downstream analyses. Understanding the genetic basis of participation bias is challenging as it requires genotypes of unseen individuals. Here we demonstrate that it is possible to estimate comparative biases by performing a genome-wide association study (GWAS) contrasting one subgroup versus another. For example, we show that sex exhibits artefactual autosomal heritability in the presence of sex-differential participation bias. By performing a GWAS of sex in ∼3.3 million males and females, we identify over 158 autosomal loci spuriously associated with sex and highlight complex traits underpinning differences in study participation between sexes. For example, the body


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