Genome-wide association studies and beyond

JS Witte - Annual review of public health, 2010 - annualreviews.org
Genome-wide association studies (GWAS) provide an important avenue for undertaking an
agnostic evaluation of the association between common genetic variants and risk of …

Pooled association tests for rare genetic variants: a review and some new results

A Derkach, JF Lawless, L Sun - 2014 - projecteuclid.org
Pooled Association Tests for Rare Genetic Variants: A Review and Some New Results. The
supplementary materials include derivation of the permutation distribution of S for general …

Likelihood-based association analysis for nuclear families and unrelated subjects with missing genotype data

F Dudbridge - Human heredity, 2008 - karger.com
Missing data occur in genetic association studies for several reasons including missing
family members and uncertain haplotype phase. Maximum likelihood is a commonly used …

Response inhibition and ADHD traits: correlates and heritability in a community sample

J Crosbie, P Arnold, A Paterson, J Swanson… - Journal of abnormal …, 2013 - Springer
Endophenotypes or intermediate phenotypes are of great interest in neuropsychiatric
genetics because of their potential for facilitating gene discovery. We evaluated response …

Using extreme phenotype sampling to identify the rare causal variants of quantitative traits in association studies

D Li, JP Lewinger, WJ Gauderman… - Genetic …, 2011 - Wiley Online Library
Variants identified in recent genome‐wide association studies based on the common‐
disease common‐variant hypothesis are far from fully explaining the hereditability of …

[BOK][B] The fundamentals of modern statistical genetics

NM Laird, C Lange - 2011 - Springer
Provides cutting edge coverage of current gene map** approaches grounded in a
traditional statistical genetics framework, with emphasis on association studies Provides …

Detecting rare variant effects using extreme phenotype sampling in sequencing association studies

IJ Barnett, S Lee, X Lin - Genetic epidemiology, 2013 - Wiley Online Library
In the increasing number of sequencing studies aimed at identifying rare variants associated
with complex traits, the power of the test can be improved by guided sampling procedures …

Genome-wide population-based association study of extremely overweight young adults–the GOYA study

L Paternoster, DM Evans, E Aagaard Nohr, C Holst… - PloS one, 2011 - journals.plos.org
Background Thirty-two common variants associated with body mass index (BMI) have been
identified in genome-wide association studies, explaining∼ 1.45% of BMI variation in …

Common Genetic Variants near the Brittle Cornea Syndrome Locus ZNF469 Influence the Blinding Disease Risk Factor Central Corneal Thickness

Y Lu, DP Dimasi, PG Hysi, AW Hewitt, KP Burdon… - PLoS …, 2010 - journals.plos.org
Central corneal thickness (CCT), one of the most highly heritable human traits (h2 typically>
0.9), is important for the diagnosis of glaucoma and a potential risk factor for glaucoma …

Genetic analyses in a sample of individuals with high or low BMD shows association with multiple Wnt pathway genes

AM Sims, N Shephard, K Carter, T Doan… - Journal of bone and …, 2008 - academic.oup.com
Using a moderate‐sized cohort selected with extreme BMD (n= 344; absolute value BMD,
1.5–4.0), significant association of several members of the Wnt signaling pathway with bone …