An integrated map of genetic variation from 1,092 human genomes
- Gil A. David M. Richard M. Gonçalo R. David R. Aravind McVean Altshuler (Co-Chair) Durbin (Co-Chair) Abec, Gil A. McVean, G. Marth
- 16 October 2012
It is shown that evolutionary conservation and coding consequence are key determinants of the strength of purifying selection, that rare-variant load varies substantially across biological pathways, and that each individual contains hundreds of rare non-coding variants at conserved sites, such as motif-disrupting changes in transcription-factor-binding sites.
Next-generation genotype imputation service and methods
- Sayantani Das, L. Forer, C. Fuchsberger
- Biology, Computer ScienceNature Genetics
- 29 August 2016
Improvements to imputation machinery are described that reduce computational requirements by more than an order of magnitude with no loss of accuracy in comparison to standard imputation tools.
Association of the T-cell regulatory gene CTLA4 with susceptibility to autoimmune disease
Genes and mechanisms involved in common complex diseases, such as the autoimmune disorders that affect approximately 5% of the population, remain obscure. Here we identify polymorphisms of the…
Association studies of up to 1.2 million individuals yield new insights into the genetic etiology of tobacco and alcohol use
- Mengzhen Liu, Yu Jiang, S. Vrieze
- MedicineNature Genetics
- 7 November 2018
Evidence is reported for the involvement of many systems in tobacco and alcohol use, including genes involved in nicotinic, dopaminergic, and glutamatergic neurotransmission, which provide a solid starting point to evaluate the effects of these loci in model organisms and more precise substance use measures.
Genome-wide association study identifies 74 loci associated with educational attainment
- A. Okbay, Jonathan P. Beauchamp, D. Benjamin
- Biology, PsychologyNature
- 31 March 2016
Because educational attainment is measured in large numbers of individuals, it will continue to be useful as a proxy phenotype in efforts to characterize the genetic influences of related phenotypes, including cognition and neuropsychiatric diseases.
Genome-wide association analyses identify 18 new loci associated with serum urate concentrations
- A. Köttgen, E. Albrecht, C. Gieger
- BiologyNature Genetics
- 23 December 2012
New candidate genes for serum urate concentration highlight the importance of metabolic control of urate production and excretion, which may have implications for the treatment and prevention of gout.
GWAS of 126,559 Individuals Identifies Genetic Variants Associated with Educational Attainment
- C. A. Rietveld, S. Medland, P. Koellinger
- 21 June 2013
Three genetic loci are found to explain variation associated with educational achievement and provide promising candidate SNPs for follow-up work, and effect size estimates can anchor power analyses in social-science genetics.
Autoimmune-associated lymphoid tyrosine phosphatase is a gain-of-function variant
- T. Vang, M. Congia, N. Bottini
- Medicine, BiologyNature Genetics
- 6 November 2005
It is concluded that the autoimmune-predisposing allele of the gene PTPN22 is a gain-of-function mutant.
The Metabochip, a Custom Genotyping Array for Genetic Studies of Metabolic, Cardiovascular, and Anthropometric Traits
- B. Voight, H. Kang, M. Boehnke
- BiologyPLoS Genetics
- 1 August 2012
The Metabochip and its component SNP sets are described and evaluated, its performance in capturing variation across the allele-frequency spectrum is evaluated, solutions to methodological challenges commonly encountered in its analysis are described, and its performance as a platform for genotype imputation is evaluated.
Genetic analysis of over 1 million people identifies 535 new loci associated with blood pressure traits
- E. Evangelou, H. Warren, M. Caulfield
- Biology, MedicineNature Genetics
- 17 September 2018
The largest genetic association study of blood pressure traits (systolic, diastolic and pulse pressure) to date in over 1 million people of European ancestry identifies 535 novel blood pressure loci that offer new insights into blood pressure regulation.