Statistical power and significance testing in large-scale genetic studies

PC Sham, SM Purcell - Nature Reviews Genetics, 2014 - nature.com
Significance testing was developed as an objective method for summarizing statistical
evidence for a hypothesis. It has been widely adopted in genetic studies, including genome …

Genome-wide association studies for common diseases and complex traits

JN Hirschhorn, MJ Daly - Nature reviews genetics, 2005 - nature.com
Genetic factors strongly affect susceptibility to common diseases and also influence disease-
related quantitative traits. Identifying the relevant genes has been difficult, in part because …

Fast and efficient QTL mapper for thousands of molecular phenotypes

H Ongen, A Buil, AA Brown, ET Dermitzakis… - …, 2016 - academic.oup.com
Motivation: In order to discover quantitative trait loci, multi-dimensional genomic datasets
combining DNA-seq and ChiP-/RNA-seq require methods that rapidly correlate tens of …

The poolr package for combining independent and dependent p values

O Cinar, W Viechtbauer - Journal of Statistical Software, 2022 - jstatsoft.org
The poolr package provides an implementation of a variety of methods for pooling (ie,
combining) p values, including Fisher's method, Stouffer's method, the inverse chisquare …

Defining the consequences of genetic variation on a proteome-wide scale

JM Chick, SC Munger, P Simecek, EL Huttlin, K Choi… - Nature, 2016 - nature.com
Genetic variation modulates protein expression through both transcriptional and post-
transcriptional mechanisms. To characterize the consequences of natural genetic diversity …

A tutorial on statistical methods for population association studies

DJ Balding - Nature reviews genetics, 2006 - nature.com
Although genetic association studies have been with us for many years, even for the
simplest analyses there is little consensus on the most appropriate statistical procedures …

High-resolution genetic mapping using the Mouse Diversity outbred population

KL Svenson, DM Gatti, W Valdar, CE Welsh, R Cheng… - Genetics, 2012 - academic.oup.com
Abstract The JAX Diversity Outbred population is a new mouse resource derived from
partially inbred Collaborative Cross strains and maintained by randomized outcrossing. As …

Estimation of the multiple testing burden for genomewide association studies of nearly all common variants

I Pe'er, R Yelensky, D Altshuler… - … : The Official Publication …, 2008 - Wiley Online Library
Genomewide association studies are an exciting strategy in genetics, recently becoming
feasible and harvesting many novel genes linked to multiple phenotypes. Determining the …

Polymorphisms in FKBP5 are associated with increased recurrence of depressive episodes and rapid response to antidepressant treatment

EB Binder, D Salyakina, P Lichtner, GM Wochnik… - Nature …, 2004 - nature.com
The stress hormone–regulating hypothalamic-pituitary-adrenal (HPA) axis has been
implicated in the causality as well as the treatment of depression. To investigate a possible …

Efficiency and power in genetic association studies

PIW De Bakker, R Yelensky, I Pe'er, SB Gabriel… - Nature …, 2005 - nature.com
We investigated selection and analysis of tag SNPs for genome-wide association studies by
specifically examining the relationship between investment in genotyping and statistical …