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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.
Finding the missing heritability of complex diseases
Genome-wide association studies have identified hundreds of genetic variants associated with complex human diseases and traits, and have provided valuable insights into their genetic architecture.…
A second generation human haplotype map of over 3.1 million SNPs
The Phase II HapMap is described, which characterizes over 3.1 million human single nucleotide polymorphisms genotyped in 270 individuals from four geographically diverse populations and includes 25–35% of common SNP variation in the populations surveyed, and increased differentiation at non-synonymous, compared to synonymous, SNPs is demonstrated.
Genetic studies of body mass index yield new insights for obesity biology
A genome-wide association study and Metabochip meta-analysis of body mass index (BMI), a measure commonly used to define obesity and assess adiposity, in up to 339,224 individuals provide strong support for a role of the central nervous system in obesity susceptibility.
Development of human protein reference database as an initial platform for approaching systems biology in humans.
This unified bioinformatics platform will be useful in cataloging and mining the large number of proteomic interactions and alterations that will be discovered in the postgenomic era.
Discovery and Refinement of Loci Associated with Lipid Levels
It is found that loci associated with blood lipid levels are often associated with cardiovascular and metabolic traits, including coronary artery disease, type 2 diabetes, blood pressure, waist-hip ratio and body mass index.
Genome-Wide Association Scan Shows Genetic Variants in the FTO Gene Are Associated with Obesity-Related Traits
It is reported that common genetic variants in the FTO gene are associated with substantial changes in BMI, hip circumference, and body weight, which could have a significant impact on the risk of obesity-related morbidity in the general population.
Genome-wide association study of blood pressure and hypertension
A genome-wide association study of systolic (SBP) and diastolic (DBP) blood pressure and hypertension in the CHARGE Consortium identifies 13 SNPs for SBP, 20 for DBP and 10 for hypertension at P < 4 × 10−7.
Hirschsprung disease, associated syndromes and genetics: a review
Isolated HSCR appears to be a non-Mendelian malformation with low, sex-dependent penetrance, and variable expression according to the length of the aganglionic segment, which stands as a model for genetic disorders with complex patterns of inheritance.
Defining the role of common variation in the genomic and biological architecture of adult human height
The results indicate a genetic architecture for human height that is characterized by a very large but finite number of causal variants, including mTOR, osteoglycin and binding of hyaluronic acid.