[HTML][HTML] Rare-variant association analysis: study designs and statistical tests
Despite the extensive discovery of trait-and disease-associated common variants, much of
the genetic contribution to complex traits remains unexplained. Rare variants can explain …
the genetic contribution to complex traits remains unexplained. Rare variants can explain …
Dissecting the genetics of complex traits using summary association statistics
B Pasaniuc, AL Price - Nature reviews genetics, 2017 - nature.com
During the past decade, genome-wide association studies (GWAS) have been used to
successfully identify tens of thousands of genetic variants associated with complex traits and …
successfully identify tens of thousands of genetic variants associated with complex traits and …
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 …
evidence for a hypothesis. It has been widely adopted in genetic studies, including genome …
Powerful, scalable and resource-efficient meta-analysis of rare variant associations in large whole genome sequencing studies
Meta-analysis of whole genome sequencing/whole exome sequencing (WGS/WES) studies
provides an attractive solution to the problem of collecting large sample sizes for discovering …
provides an attractive solution to the problem of collecting large sample sizes for discovering …
Fast and accurate imputation of summary statistics enhances evidence of functional enrichment
Motivation: Imputation using external reference panels (eg 1000 Genomes) is a widely used
approach for increasing power in genome-wide association studies and meta-analysis …
approach for increasing power in genome-wide association studies and meta-analysis …
Meta-analysis of gene-level tests for rare variant association
The majority of reported complex disease associations for common genetic variants have
been identified through meta-analysis, a powerful approach that enables the use of large …
been identified through meta-analysis, a powerful approach that enables the use of large …
A guide to genome‐wide association analysis and post‐analytic interrogation
E Reed, S Nunez, D Kulp, J Qian, MP Reilly… - Statistics in …, 2015 - Wiley Online Library
This tutorial is a learning resource that outlines the basic process and provides specific
software tools for implementing a complete genome‐wide association analysis. Approaches …
software tools for implementing a complete genome‐wide association analysis. Approaches …
[HTML][HTML] Genetic studies of Crohn's disease: past, present and future
JZ Liu, CA Anderson - Best Practice & Research Clinical Gastroenterology, 2014 - Elsevier
The exact aetiology of Crohn's disease is unknown, though it is clear from early
epidemiological studies that a combination of genetic and environmental risk factors …
epidemiological studies that a combination of genetic and environmental risk factors …
Genetics of the dentofacial variation in human malocclusion
LM Moreno Uribe, SF Miller - Orthodontics & craniofacial …, 2015 - Wiley Online Library
Malocclusions affect individuals worldwide, resulting in compromised function and esthetics.
Understanding the etiological factors contributing to the variation in dentofacial morphology …
Understanding the etiological factors contributing to the variation in dentofacial morphology …
[HTML][HTML] Multi-trait analysis of rare-variant association summary statistics using MTAR
Integrating association evidence across multiple traits can improve the power of gene
discovery and reveal pleiotropy. Most multi-trait analysis methods focus on individual …
discovery and reveal pleiotropy. Most multi-trait analysis methods focus on individual …