Next-generation association studies for complex traits

‘Next-generation’ genome wide association studies

The first wave of cancer genome-wide association studies (GWAS) have revealed tens of independent loci marked by common variants of unknown or likely no functional significance that explain about 5-10% of familial risk for the particular disease. The approach taken to date has been conservative, and only a fraction of information has yet to be extracted from these expensive enterprises. For exa...

Designing genetic association studies for complex traits in India

Genome Wide Association Studies, Next Generation Sequencing and Their Application in Animal Breeding and Genetics: A Review

Recently genetic studies have been revolutionized by next generation sequencing (NGS) technology, and it is expected that the use of this technology will largely eliminate defects in the methods of association studies. The NGS technology is becoming the premier tool in genetics. However, at the moment the use of this method is limited especially in the livestock due to high cost and computation...

Complex genetics of pulmonary diseases: lessons from genome-wide association studies and next-generation sequencing.

The advent of high-throughput technologies has provided exceptional assistance for lung scientists to discover novel genetic variants underlying the development and progression of complex lung diseases. However, the discovered variants thus far do not explain much of the estimated heritability of complex lung diseases. Here, we review the literature of successfully used genome-wide association ...

Imputation of rare variants in next-generation association studies.

The role of rare variants has become a focus in the search for association with complex traits. Imputation is a powerful and cost-efficient tool to access variants that have not been directly typed, but there are several challenges when imputing rare variants, most notably reference panel selection. Extensions to rare variant association tests to incorporate genotype uncertainty from imputation...