SAIGE-GENE+ improves the efficiency and accuracy of set-based rare variant association tests

Computationally efficient whole-genome regression for quantitative and binary traits

(2021) Joelle Mbatchou et al.   NATURE GENETICS

Scalable generalized linear mixed model for region-based association tests in large biobanks and cohorts

(2020) Wei Zhou et al.   NATURE GENETICS

Exploring and visualizing large-scale genetic associations by using PheWeb

(2020) Sarah A. Gagliano Taliun et al.   NATURE GENETICS

Dynamic incorporation of multiple in silico functional annotations empowers rare variant association analysis of large whole-genome sequencing studies at scale

(2020) Xihao Li et al.   NATURE GENETICS

Cauchy combination test: a powerful test with analytic p-value calculation under arbitrary dependency structures

(2019) Yaowu Liu et al.   JOURNAL OF THE AMERICAN STATISTICAL ASSOCIATION

ACAT: A Fast and Powerful p Value Combination Method for Rare-Variant Analysis in Sequencing Studies

(2019) Yaowu Liu et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Rare-variant collapsing analyses for complex traits: guidelines and applications

(2019) Gundula Povysil et al.   NATURE REVIEWS GENETICS

The UK Biobank resource with deep phenotyping and genomic data

(2018) Clare Bycroft et al.   NATURE

Optimal tests for rare variant effects in sequencing association studies

(2012) S. Lee et al.   BIOSTATISTICS

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

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

ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data

(2010) K. Wang et al.   NUCLEIC ACIDS RESEARCH