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A global reference for human genetic variation
- Taras K. Oleksyk, Adam Gonçalo R. David M. Richard M. Gonçalo R. David R. Auton Abecasis Altshuler Durbin Abecasis Bentley C, Shane A. McCarthy
- 30 September 2015
The 1000 Genomes Project set out to provide a comprehensive description of common human genetic variation by applying whole-genome sequencing to a diverse set of individuals from multiple populations, and has reconstructed the genomes of 2,504 individuals from 26 populations using a combination of low-coverage whole-generation sequencing, deep exome sequencing, and dense microarray genotyping.
PGC-1α-responsive genes involved in oxidative phosphorylation are coordinately downregulated in human diabetes
An analytical strategy is introduced, Gene Set Enrichment Analysis, designed to detect modest but coordinate changes in the expression of groups of functionally related genes, which identifies a set of genes involved in oxidative phosphorylation whose expression is coordinately decreased in human diabetic muscle.
Biological, Clinical, and Population Relevance of 95 Loci for Blood Lipids
The results identify several novel loci associated with plasma lipids that are also associated with CAD and provide the foundation to develop a broader biological understanding of lipoprotein metabolism and to identify new therapeutic opportunities for the prevention of CAD.
Efficiency and power in genetic association studies
- P. D. Bakker, R. Yelensky, I. Pe’er, S. Gabriel, M. Daly, D. Altshuler
- BiologyNature Genetics
- 23 October 2005
A haplotype-based tagging method is demonstrated that uniformly outperforms single-marker tests and methods for prioritization that markedly increase tagging efficiency, and is robust to the completeness of the reference panel from which tags are selected.
Age-related clonal hematopoiesis associated with adverse outcomes.
Age-related clonal hematopoiesis is a common condition that is associated with increases in the risk of hematologic cancer and in all-cause mortality, with the latter possibly due to an increased risk of cardiovascular disease.
Integrating common and rare genetic variation in diverse human populations
An expanded public resource of genome variants in global populations supports deeper interrogation of genomic variation and its role in human disease, and serves as a step towards a high-resolution map of the landscape of human genetic variation.
Six new loci associated with body mass index highlight a neuronal influence on body weight regulation
Several of the likely causal genes are highly expressed or known to act in the central nervous system (CNS), emphasizing, as in rare monogenic forms of obesity, the role of the CNS in predisposition to obesity.
Integrated detection and population-genetic analysis of SNPs and copy number variation
A map of human CNV (at 2-kb breakpoint resolution) informed by integer genotypes for 1,320 copy number polymorphisms (CNPs) that segregate at an allele frequency >1% is developed, indicating that large (>100 kb) CNVs affect much less of the genome than initially reported.
New genetic loci implicated in fasting glucose homeostasis and their impact on type 2 diabetes risk
It is demonstrated that genetic studies of glycemic traits can identify type 2 diabetes risk loci, as well as loci containing gene variants that are associated with a modest elevation in glucose levels but are not associated with overt diabetes.
Meta-analysis of genome-wide association data and large-scale replication identifies additional susceptibility loci for type 2 diabetes
The results illustrate the value of large discovery and follow-up samples for gaining further insights into the inherited basis of T2D, and detect at least six previously unknown loci with robust evidence for association.