Journal
NATURE
Volume 526, Issue 7571, Pages 82-+Publisher
NATURE PUBLISHING GROUP
DOI: 10.1038/nature14962
Keywords
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Categories
Funding
- Wellcome Trust [WT091310]
- Biotechnology and Biological Sciences Research Council [BB/M020991/1, BB/K015427/1] Funding Source: researchfish
- British Heart Foundation [RG/10/13/28570, RG/10/17/28553, RG/08/008/25291, PG/07/045/22690] Funding Source: researchfish
- Chief Scientist Office [SCD/12, CZD/16/6/4] Funding Source: researchfish
- Economic and Social Research Council [ES/J023299/1, ES/M001660/1] Funding Source: researchfish
- Great Ormond Street Hospital Childrens Charity [V1299] Funding Source: researchfish
- Medical Research Council [MC_UU_12013/4, MR/K013351/1, MR/J012165/1, MC_U106179472, MC_UU_12012/5/B, MC_UU_12015/1, MC_UU_12015/2, G0902313, G0800509, MR/L010305/1, MC_PC_13048, MC_PC_15018, G0801843, MC_UU_12013/3, MC_UU_12013/1, MR/K000608/1, MC_PC_13046, G9817803B, G0500870] Funding Source: researchfish
- National Institute for Health Research [NF-SI-0508-10198, NF-SI-0510-10268, NF-SI-0513-10109, NF-SI-0514-10176, NF-SI-0514-10027, NF-SI-0507-10380] Funding Source: researchfish
- BBSRC [BB/K015427/1, BB/M020991/1] Funding Source: UKRI
- ESRC [ES/J023299/1, ES/M001660/1] Funding Source: UKRI
- MRC [G0801843, G0902313, G0500870, MR/K000608/1, MC_UU_12015/2, MC_UU_12013/1, MC_UU_12013/3, MR/K013351/1, MC_UU_12013/4, G0800509, MC_U106179472, MC_UU_12015/1, MR/J012165/1] Funding Source: UKRI
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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), 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.
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