DoEstRare: A statistical test to identify local enrichments in rare genomic variants associated with disease

Analysis of protein-coding genetic variation in 60,706 humans

(2016) Monkol Lek et al.   NATURE

Testing the burden of rare variation in arrhythmia-susceptibility genes provides new insights into molecular diagnosis for Brugada syndrome

(2015) Solena Le Scouarnec et al.   HUMAN MOLECULAR GENETICS

Rare variant association studies: considerations, challenges and opportunities

(2015) Paul L Auer et al.   Genome Medicine

The Power of Gene-Based Rare Variant Methods to Detect Disease-Associated Variation and Test Hypotheses About Complex Disease

(2015) Loukas Moutsianas et al.   PLoS Genetics

Rare-Variant Association Analysis: Study Designs and Statistical Tests

(2014) Seunggeung Lee et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Rare Variant Association Testing by Adaptive Combination of P-values

(2014) Wan-Yu Lin et al.   PLoS One

Association Testing of Clustered Rare Causal Variants in Case-Control Studies

(2014) Wan-Yu Lin   PLoS One

An adaptive permutation approach for genome-wide association study: evaluation and recommendations for use

(2014) Ronglin Che et al.   BioData Mining

Detecting genomic clustering of risk variants from sequence data: cases versus controls

(2013) Daniel J. Schaid et al.   HUMAN GENETICS

The NHGRI GWAS Catalog, a curated resource of SNP-trait associations

(2013) Danielle Welter et al.   NUCLEIC ACIDS RESEARCH

Fine-Scale Patterns of Population Stratification Confound Rare Variant Association Tests

(2013) Timothy D. O’Connor et al.   PLoS One

A Hybrid Likelihood Model for Sequence-Based Disease Association Studies

(2013) Yun-Ching Chen et al.   PLoS Genetics

Scan-Statistic Approach Identifies Clusters of Rare Disease Variants in LRP2, a Gene Linked and Associated with Autism Spectrum Disorders, in Three Datasets

(2012) Iuliana Ionita-Laza et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Optimal Unified Approach for Rare-Variant Association Testing with Application to Small-Sample Case-Control Whole-Exome Sequencing Studies

(2012) Seunggeun Lee et al.   AMERICAN JOURNAL OF HUMAN GENETICS

'Location, Location, Location': a spatial approach for rare variant analysis and an application to a study on non-syndromic cleft lip with or without cleft palate

(2012) H. Fier et al.   BIOINFORMATICS

A Fast and Noise-Resilient Approach to Detect Rare-Variant Associations With Deep Sequencing Data for Complex Disorders

(2012) Yee Him Cheung et al.   GENETIC EPIDEMIOLOGY

Differential confounding of rare and common variants in spatially structured populations

(2012) Iain Mathieson et al.   NATURE GENETICS

Rare-Variant Association Testing for Sequencing Data with the Sequence Kernel Association Test

(2011) Michael C. Wu et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Comparison of statistical tests for disease association with rare variants

(2011) Saonli Basu et al.   GENETIC EPIDEMIOLOGY

Testing for an Unusual Distribution of Rare Variants

(2011) Benjamin M. Neale et al.   PLoS Genetics

Pooled Association Tests for Rare Variants in Exon-Resequencing Studies

(2010) Alkes L. Price et al.   AMERICAN JOURNAL OF HUMAN GENETICS

A Data-Adaptive Sum Test for Disease Association with Multiple Common or Rare Variants

(2010) Fang Han et al.   HUMAN HEREDITY

Should We Abandon the t-Test in the Analysis of Gene Expression Microarray Data: A Comparison of Variance Modeling Strategies

(2010) Marine Jeanmougin et al.   PLoS One

A Novel Adaptive Method for the Analysis of Next-Generation Sequencing Data to Detect Complex Trait Associations with Rare Variants Due to Gene Main Effects and Interactions

(2010) Dajiang J. Liu et al.   PLoS Genetics

Finding the missing heritability of complex diseases

(2009) Teri A. Manolio et al.   NATURE

A Groupwise Association Test for Rare Mutations Using a Weighted Sum Statistic

(2009) Bo Eskerod Madsen et al.   PLoS Genetics

Methods for Detecting Associations with Rare Variants for Common Diseases: Application to Analysis of Sequence Data

(2008) Bingshan Li et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Personal genomes: The case of the missing heritability

(2008) Brendan Maher   NATURE