TY - T1 - The UK10K project identifies rare variants in health and disease SN - / UR - http://hdl.handle.net/10138/158946 T3 - A1 - UK10K Consortium; UCLEB Consortium A2 - PB - Y1 - 2015 LA - eng AB - 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, 7x) or exomes (high read depth, 80x) of nearly 10,000 individuals from population-based and disease collections. In extensively phenotyped cohorts we characterize over 24 million novel sequence variants, generate a highly accurate imputation reference panel and identify novel alleles associated with levels of triglycerides (APOB), adi... VO - IS - SP - OP - KW - GENOME-WIDE ASSOCIATION; OF-FUNCTION MUTATIONS; LOW-FREQUENCY; INCIDENTAL FINDINGS; SEQUENCE VARIATION; COMPLEX TRAITS; POPULATION; COMMON; HERITABILITY; APOC3; 3141 Health care science N1 - PP - ER -