1. Genome-wide rare variant analysis for thousands of phenotypes in over 70,000 exomes from two cohorts
- Author
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Magnus Isaksson, Robert W Read, Simon R. White, Francisco Tanudjaja, Karen Schlauch, Nicole L. Washington, Joseph J. Grzymski, Gai Elhanan, Elizabeth T. Cirulli, Donna M. Fath, Efren Sandoval, William J. Metcalf, and James T. Lu
- Subjects
Male ,0301 basic medicine ,General Physics and Astronomy ,Genome-wide association study ,Cohort Studies ,0302 clinical medicine ,Databases, Genetic ,Genetics research ,Exome ,lcsh:Science ,Exome sequencing ,Aged, 80 and over ,Genetics ,education.field_of_study ,Multidisciplinary ,High-Throughput Nucleotide Sequencing ,Middle Aged ,Biobank ,Europe ,Phenotype ,030220 oncology & carcinogenesis ,Cohort ,Female ,Cohort study ,Adult ,Adolescent ,Science ,Population ,Biology ,Article ,General Biochemistry, Genetics and Molecular Biology ,Young Adult ,03 medical and health sciences ,Meta-Analysis as Topic ,Exome Sequencing ,Genetic variation ,Humans ,education ,Genotyping ,Aged ,Genetic association study ,Genome, Human ,Genetic Variation ,Rare variants ,General Chemistry ,Genetics, Population ,030104 developmental biology ,Next-generation sequencing ,lcsh:Q ,Software ,Genome-Wide Association Study - Abstract
Understanding the impact of rare variants is essential to understanding human health. We analyze rare (MAF, Population-based association analyses of rare genetic variants with complex traits are limited by the availability of data from sufficiently large cohorts. Here, Cirulli et al. report gene-based collapsing analysis of exomes from 49,960 participants of the UK Biobank and 21,866 participants of the Healthy Nevada Project over a total of 4377 traits.
- Published
- 2020