摘要: The contribution of rare and low-frequency variants to human traits is largely unexplored. Here we describe insights from sequencing whole genomes (low read depth, 7×) or exomes (high 80×) nearly 10,000 individuals population-based disease collections. In extensively phenotyped cohorts characterize over 24 million novel sequence variants, generate a highly accurate imputation reference panel identify alleles associated with levels triglycerides (APOB), adiponectin (ADIPOQ) low-density lipoprotein cholesterol (LDLR RGAG1) single-marker variant aggregation tests. We population structure functional annotation use the data estimate benefits for association studies, summarize lessons disease-specific Finally, make available an extensive resource, including individual-level genetic phenotypic web-based tools facilitate exploration results.
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