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|Title:||The UK10K project identifies rare variants in health and disease|
|Authors:||Wain, Louise V.|
Min, J. L.
Perry, J. R.
|Publisher:||Nature Publishing Group|
|Citation:||Nature, 2015, 526, pp. 82-82 (90)|
|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.|
|Rights:||Copyright © 2015, Rights Managed by Nature Publishing Group. This is the Final Accepted Version of a paper published in Nature.|
|Description:||The file associated with this record is under a 6-month embargo from publication in accordance with the publisher's self-archiving policy, available at http://www.nature.com/authors/policies/license.html. The full text may be available in the publisher links provided above.|
|Appears in Collections:||Published Articles, Dept. of Health Sciences|
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|uk10k_Main_25-06-2015.docx||Post-review (final submitted)||283.53 kB||Unknown||View/Open|
|uk10k_Main_25-06-2015.pdf||Post-review (final submitted)||547.74 kB||Adobe PDF||View/Open|
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