LOGIN TO YOUR ACCOUNT

Username
Password
Remember Me
Or use your Academic/Social account:

CREATE AN ACCOUNT

Or use your Academic/Social account:

Congratulations!

You have just completed your registration at OpenAire.

Before you can login to the site, you will need to activate your account. An e-mail will be sent to you with the proper instructions.

Important!

Please note that this site is currently undergoing Beta testing.
Any new content you create is not guaranteed to be present to the final version of the site upon release.

Thank you for your patience,
OpenAire Dev Team.

Close This Message

CREATE AN ACCOUNT

Name:
Username:
Password:
Verify Password:
E-mail:
Verify E-mail:
*All Fields Are Required.
Please Verify You Are Human:
fbtwitterlinkedinvimeoflicker grey 14rssslideshare1
McKechanie, Andrew (2015)
Publisher: Nature Publishing Group
Languages: English
Types: Article
Subjects: Adiponectin, Receptors, LDL, 3141 Health care science, Lipid Metabolism, UK10K Consortium, SEQUENCE VARIATION, Multidisciplinary Sciences, Research Support, Non-U.S. Gov't, HERITABILITY, Molecular Sequence Annotation, COMMON, Sequence Analysis, DNA, Genomics, INCIDENTAL FINDINGS, APOC3, Science & Technology - Other Topics, Female, Alleles, Genome, Human, MD Multidisciplinary, Disease, OF-FUNCTION MUTATIONS, Genetic Variation, Health, COMPLEX TRAITS, Great Britain, Triglycerides, /dk/atira/pure/publication/pubmedpublicationtype/D013485, Reference Standards, Article, POPULATION, Genetics, Medical, genetics,UK10K,Whole-genome sequencing, Exome, Science & Technology, Genome-Wide Association Study, Cohort Studies, Genetics, Population, General Science & Technology, /dk/atira/pure/publication/pubmedpublicationtype/D016428, Journal Article, Genetic Predisposition to Disease, GENOME-WIDE ASSOCIATION, LOW-FREQUENCY, Humans, Male

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.