Statistical analysis strategies for association studies involving rare variants

V Bansal, O Libiger, A Torkamani… - Nature Reviews Genetics, 2010 - nature.com
The limitations of genome-wide association (GWA) studies that focus on the phenotypic
influence of common genetic variants have motivated human geneticists to consider the …

Rare variant association analysis methods for complex traits

J Asimit, E Zeggini - Annual review of genetics, 2010 - annualreviews.org
There has been increasing interest in rare variants and their association with disease, and
several rare variant–disease associations have already been detected. The usual …

SPARK-X: non-parametric modeling enables scalable and robust detection of spatial expression patterns for large spatial transcriptomic studies

J Zhu, S Sun, X Zhou - Genome biology, 2021 - Springer
Spatial transcriptomic studies are becoming increasingly common and large, posing
important statistical and computational challenges for many analytic tasks. Here, we present …

Optimal unified approach for rare-variant association testing with application to small-sample case-control whole-exome sequencing studies

S Lee, MJ Emond, MJ Bamshad, KC Barnes… - The American Journal of …, 2012 - cell.com
We propose in this paper a unified approach for testing the association between rare
variants and phenotypes in sequencing association studies. This approach maximizes …

Powerful SNP-set analysis for case-control genome-wide association studies

MC Wu, P Kraft, MP Epstein, DM Taylor… - The American Journal of …, 2010 - cell.com
GWAS have emerged as popular tools for identifying genetic variants that are associated
with disease risk. Standard analysis of a case-control GWAS involves assessing the …

A general framework for detecting disease associations with rare variants in sequencing studies

DY Lin, ZZ Tang - The American Journal of Human Genetics, 2011 - cell.com
Biological and empirical evidence suggests that rare variants account for a large proportion
of the genetic contributions to complex human diseases. Recent technological advances in …

Comparison of statistical tests for disease association with rare variants

S Basu, W Pan - Genetic epidemiology, 2011 - Wiley Online Library
In anticipation of the availability of next‐generation sequencing data, there is increasing
interest in investigating association between complex traits and rare variants (RVs). In …

Kernel-based whole-genome prediction of complex traits: a review

G Morota, D Gianola - Frontiers in genetics, 2014 - frontiersin.org
Prediction of genetic values has been a focus of applied quantitative genetics since the
beginning of the 20th century, with renewed interest following the advent of the era of whole …

A powerful and flexible multilocus association test for quantitative traits

LC Kwee, D Liu, X Lin, D Ghosh, MP Epstein - The American Journal of …, 2008 - cell.com
Association mapping of complex traits typically employs tagSNP genotype data to identify a
trait locus within a region of interest. However, considerable debate exists regarding the …

An adaptive two-sample test for high-dimensional means

G Xu, L Lin, P Wei, W Pan - Biometrika, 2016 - academic.oup.com
Several two-sample tests for high-dimensional data have been proposed recently, but they
are powerful only against certain alternative hypotheses. In practice, since the true …