Genetic Epidemiology

Cover image for Vol. 39 Issue 2

Edited By: Sanjay Shete

Impact Factor: 2.951

ISI Journal Citation Reports © Ranking: 2013: 25/162 (Public Environmental & Occupational Health); 66/165 (Genetics & Heredity)

Online ISSN: 1098-2272

Virtual Issue: Design and Analytic Approaches in Sequencing Studies


Editor: Sanjay Shete

In the post-GWAS era, investigators have shifted their focus on identifying rare causal variants through sequencing. Although the cost of whole genome sequencing has dropped significantly, it is still expensive to perform the whole genome sequencing for thousands of individuals at a high coverage depth. The papers selected in this virtual issue discuss topics such as: optimal number of unrelated individuals or family members to select for sequencing; two-stage designs; imputation to infer sequences; advantage and cost-efficiency of extreme phenotype sampling in rare-variant analyses; using linkage information to select pedigree members for sequencing; an approach for assigning weights based on sibpairs and observed odds ratios to identify rare and common variants; a Bayesian approach to identify rare variants within a gene; and an approach to use data from different sources to increase efficiency in making genotype calls for rare SNPs. All these articles are freely available online.

Optimized Selection of Unrelated Subjects for Whole-Genome Sequencing Studies of Rare High-Penetrance Alleles
Todd L. Edwards and Chun Li

Two-Phase Stratified Sampling Designs for Regional Sequencing
Zhijian Chen, Radu V. Craiu and Shelley B. Bull

A Two-Platform Design for Next Generation Genome-Wide Association Studies
Joshua N. Sampson, Kevin Jacobs, Zhaoming Wang, Meredith Yeager, Stephen Chanock and Nilanjan Chatterjee

Efficient study design for next generation sequencing
Joshua Sampson, Kevin Jacobs, Meredith Yeager, Stephen Chanock and Nilanjan Chatterjee

Using extreme phenotype sampling to identify the rare causal variants of quantitative traits in association studies
Dalin Li, Juan Pablo Lewinger, William J. Gauderman, Cassandra Elizabeth Murcray and David Conti

Optimum designs for next-generation sequencing to discover rare variants for common complex disease
Gang Shi and D.C. Rao

Detecting rare and common variants for complex traits: sibpair and odds ratio weighted sum statistics (SPWSS, ORWSS)
Tao Feng, Robert C. Elston and Xiaofeng Zhu

Bayesian analysis of rare variants in genetic association studies
Nengjun Yi and Degui Zhi

Joint Genotype Calling With Array and Sequence Data
Jared O'Connell and Jonathan Marchini

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