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The UK10K project identifies rare variants in health and disease
- Publication Year :
- 2018
- Publisher :
- Springer Science and Business Media LLC, 2018.
-
Abstract
- 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 read depth, 80×) 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), adiponectin (ADIPOQ) and low-density lipoprotein cholesterol (LDLR and RGAG1) from single-marker and rare variant aggregation tests. We describe population structure and functional annotation of rare and low-frequency variants, use the data to estimate the benefits of sequencing for association studies, and summarize lessons from disease-specific collections. Finally, we make available an extensive resource, including individual-level genetic and phenotypic data and web-based tools to facilitate the exploration of association results.
- Subjects :
- Male
Genome, Human
Genetics, Medical
Genetic Variation
Molecular Sequence Annotation
Genomics
Sequence Analysis, DNA
Reference Standards
Lipid Metabolism
United Kingdom
Cohort Studies
Genetics, Population
Receptors, LDL
Health
Humans
Disease
Exome
Female
Genetic Predisposition to Disease
Adiponectin
Alleles
Triglycerides
Genome-Wide Association Study
Subjects
Details
- ISSN :
- 14764687 and 00280836
- Database :
- OpenAIRE
- Accession number :
- edsair.doi.dedup.....8d70ab68d80f8f56d00034a89f9ec09c
- Full Text :
- https://doi.org/10.17863/cam.24790