FunSPU: A versatile and adaptive multiple functional annotation-based association test of whole-genome sequencing data

An analytical framework for whole-genome sequence association studies and its implications for autism spectrum disorder

(2018) Donna M. Werling et al.   NATURE GENETICS

APOE4 Causes Widespread Molecular and Cellular Alterations Associated with Alzheimer’s Disease Phenotypes in Human iPSC-Derived Brain Cell Types

(2018) Yuan-Ta Lin et al.   NEURON

Deep-coverage whole genome sequences and blood lipids among 16,324 individuals

(2018) Pradeep Natarajan et al.   Nature Communications

Genetic effects on gene expression across human tissues

(2017) François Aguet et al.   NATURE

Analysis commons, a team approach to discovery in a big-data environment for genetic epidemiology

(2017) Jennifer A Brody et al.   NATURE GENETICS

Exome-wide association study of plasma lipids in >300,000 individuals

(2017) Dajiang J Liu et al.   NATURE GENETICS

An adaptive two-sample test for high-dimensional means

(2016) Gongjun Xu et al.   BIOMETRIKA

A unified powerful set-based test for sequencing data analysis of GxE interactions

(2016) Yu-Ru Su et al.   BIOSTATISTICS

The performance of deleteriousness prediction scores for rare non-protein-changing single nucleotide variants in human genes

(2016) Xiaoming Liu et al.   JOURNAL OF MEDICAL GENETICS

A spectral approach integrating functional genomic annotations for coding and noncoding variants

(2016) Iuliana Ionita-Laza et al.   NATURE GENETICS

On Robust Association Testing for Quantitative Traits and Rare Variants

(2016) Peng Wei et al.   G3-Genes Genomes Genetics

Integrative Tissue-Specific Functional Annotations in the Human Genome Provide Novel Insights on Many Complex Traits and Improve Signal Prioritization in Genome Wide Association Studies

(2016) Qiongshi Lu et al.   PLoS Genetics

A Powerful Pathway-Based Adaptive Test for Genetic Association with Common or Rare Variants

(2015) Wei Pan et al.   AMERICAN JOURNAL OF HUMAN GENETICS

An integrative approach to predicting the functional effects of non-coding and coding sequence variation

(2015) Hashem A. Shihab et al.   BIOINFORMATICS

WGSA: an annotation pipeline for human genome sequencing studies

(2015) Xiaoming Liu et al.   JOURNAL OF MEDICAL GENETICS

Integrative analysis of 111 reference human epigenomes

(2015) Anshul Kundaje et al.   NATURE

The UK10K project identifies rare variants in health and disease

(2015)   NATURE

Partitioning heritability by functional annotation using genome-wide association summary statistics

(2015) Hilary K Finucane et al.   NATURE GENETICS

Predicting effects of noncoding variants with deep learning–based sequence model

(2015) Jian Zhou et al.   NATURE METHODS

UK Biobank: An Open Access Resource for Identifying the Causes of a Wide Range of Complex Diseases of Middle and Old Age

(2015) Cathie Sudlow et al.   PLOS MEDICINE

Whole-Exome Sequencing Identifies Rare and Low-Frequency Coding Variants Associated with LDL Cholesterol

(2014) Leslie A. Lange et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Partitioning Heritability of Regulatory and Cell-Type-Specific Variants across 11 Common Diseases

(2014) Alexander Gusev et al.   AMERICAN JOURNAL OF HUMAN GENETICS

A Powerful and Adaptive Association Test for Rare Variants

(2014) Wei Pan et al.   GENETICS

A general framework for estimating the relative pathogenicity of human genetic variants

(2014) Martin Kircher et al.   NATURE GENETICS

Loss-of-Function Mutations in APOC3, Triglycerides, and Coronary Disease

(2014)   NEW ENGLAND JOURNAL OF MEDICINE

Integrative Annotation of Variants from 1092 Humans: Application to Cancer Genomics

(2013) Ekta Khurana et al.   SCIENCE

Annotation of functional variation in personal genomes using RegulomeDB

(2012) A. P. Boyle et al.   GENOME RESEARCH

An integrated encyclopedia of DNA elements in the human genome

(2012)   NATURE

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

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

GCTA: A Tool for Genome-wide Complex Trait Analysis

(2010) Jian Yang et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Genetic Variants Influencing Circulating Lipid Levels and Risk of Coronary Artery Disease

(2010) Dawn M. Waterworth et al.   ARTERIOSCLEROSIS THROMBOSIS AND VASCULAR BIOLOGY

Genome-Wide Significance Levels and Weighted Hypothesis Testing

(2010) Kathryn Roeder et al.   STATISTICAL SCIENCE

Identifying a High Fraction of the Human Genome to be under Selective Constraint Using GERP++

(2010) Eugene V. Davydov et al.   PLoS Computational Biology

Asymptotic tests of association with multiple SNPs in linkage disequilibrium

(2009) Wei Pan   GENETIC EPIDEMIOLOGY

Common variants at 30 loci contribute to polygenic dyslipidemia

(2008) Sekar Kathiresan et al.   NATURE GENETICS

Newly identified loci that influence lipid concentrations and risk of coronary artery disease

(2008) Cristen J Willer et al.   NATURE GENETICS