From genome-wide associations to candidate causal variants by statistical fine-mapping

Assessment of the Clinical Relevance of BRCA2 Missense Variants by Functional and Computational Approaches

(2018) Lucia Guidugli et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Fine-mapping of prostate cancer susceptibility loci in a large meta-analysis identifies candidate causal variants

(2018) Tokhir Dadaev et al.   Nature Communications

Genome-wide associations of CD46 and IFI44L genetic variants with neutralizing antibody response to measles vaccine

(2017) Iana H. Haralambieva et al.   HUMAN GENETICS

Trans-ethnic meta-regression of genome-wide association studies accounting for ancestry increases power for discovery and improves fine-mapping resolution

(2017) Reedik Mägi et al.   HUMAN MOLECULAR GENETICS

Fine-mapping inflammatory bowel disease loci to single-variant resolution

(2017) Hailiang Huang et al.   NATURE

Genetic effects on gene expression across human tissues

(2017) François Aguet et al.   NATURE

Settling the score: variant prioritization and Mendelian disease

(2017) Karen Eilbeck et al.   NATURE REVIEWS GENETICS

Trans -ancestry Fine Mapping and Molecular Assays Identify Regulatory Variants at the ANGPTL8 HDL-C GWAS Locus

(2017) Maren E. Cannon et al.   G3-Genes Genomes Genetics

Guidelines for Large-Scale Sequence-Based Complex Trait Association Studies: Lessons Learned from the NHLBI Exome Sequencing Project

(2016) Paul L. Auer et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Colocalization of GWAS and eQTL Signals Detects Target Genes

(2016) Farhad Hormozdiari et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Efficient Integrative Multi-SNP Association Analysis via Deterministic Approximation of Posteriors

(2016) Xiaoquan Wen et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Trinculo: Bayesian and frequentist multinomial logistic regression for genome-wide association studies of multi-category phenotypes

(2016) Luke Jostins et al.   BIOINFORMATICS

Improved methods for multi-trait fine mapping of pleiotropic risk loci

(2016) Gleb Kichaev et al.   BIOINFORMATICS

FINEMAP: efficient variable selection using summary data from genome-wide association studies

(2016) Christian Benner et al.   BIOINFORMATICS

The OncoArray Consortium: A Network for Understanding the Genetic Architecture of Common Cancers

(2016) Christopher I. Amos et al.   CANCER EPIDEMIOLOGY BIOMARKERS & PREVENTION

Trans-ethnic study design approaches for fine-mapping

(2016) Jennifer L Asimit et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

JAM: A Scalable Bayesian Framework for Joint Analysis of Marginal SNP Effects

(2016) Paul J. Newcombe et al.   GENETIC EPIDEMIOLOGY

Incorporating Functional Annotations for Fine-Mapping Causal Variants in a Bayesian Framework Using Summary Statistics

(2016) W. Chen et al.   GENETICS

The genetic architecture of type 2 diabetes

(2016) Christian Fuchsberger et al.   NATURE

Weighting sequence variants based on their annotation increases power of whole-genome association studies

(2016) Gardar Sveinbjornsson et al.   NATURE GENETICS

A reference panel of 64,976 haplotypes for genotype imputation

(2016)   NATURE GENETICS

Integration of summary data from GWAS and eQTL studies predicts complex trait gene targets

(2016) Zhihong Zhu et al.   NATURE GENETICS

The state of play in higher eukaryote gene annotation

(2016) Jonathan M. Mudge et al.   NATURE REVIEWS GENETICS

Dissecting the genetics of complex traits using summary association statistics

(2016) Bogdan Pasaniuc et al.   NATURE REVIEWS GENETICS

The new NHGRI-EBI Catalog of published genome-wide association studies (GWAS Catalog)

(2016) Jacqueline MacArthur et al.   NUCLEIC ACIDS RESEARCH

Leveraging Functional-Annotation Data in Trans-ethnic Fine-Mapping Studies

(2015) Gleb Kichaev et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Trans-Ethnic Meta-Analysis Identifies Common and Rare Variants Associated with Hepatocyte Growth Factor Levels in the Multi-Ethnic Study of Atherosclerosis (MESA)

(2015) Nicholas B. Larson et al.   ANNALS OF HUMAN GENETICS

Fine Mapping Causal Variants with an Approximate Bayesian Method Using Marginal Test Statistics

(2015) Wenan Chen et al.   GENETICS

Strategies for fine-mapping complex traits

(2015) Sarah L. Spain et al.   HUMAN MOLECULAR GENETICS

Integrative analysis of 111 reference human epigenomes

(2015) Anshul Kundaje et al.   NATURE

A global reference for human genetic variation

(2015) Richard A. Gibbs et al.   NATURE

A comprehensive 1000 Genomes–based genome-wide association meta-analysis of coronary artery disease

(2015) Majid Nikpay et al.   NATURE GENETICS

Dissection of a Complex Disease Susceptibility Region Using a Bayesian Stochastic Search Approach to Fine Mapping

(2015) Chris Wallace et al.   PLoS Genetics

Fine Mapping Causal Variants with an Approximate Bayesian Method Using Marginal Test Statistics

(2015) Wenan Chen et al.   GENETICS

Joint Analysis of Functional Genomic Data and Genome-wide Association Studies of 18 Human Traits

(2014) Joseph K. Pickrell   AMERICAN JOURNAL OF HUMAN GENETICS

Identifying Causal Variants at Loci with Multiple Signals of Association

(2014) F. Hormozdiari et al.   GENETICS

An atlas of active enhancers across human cell types and tissues

(2014) Robin Andersson et al.   NATURE

Guidelines for investigating causality of sequence variants in human disease

(2014) D. G. MacArthur et al.   NATURE

Biological insights from 108 schizophrenia-associated genetic loci

(2014)   NATURE

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

(2014) Martin Kircher et al.   NATURE GENETICS

A meta-analysis of 87,040 individuals identifies 23 new susceptibility loci for prostate cancer

(2014) Ali Amin Al Olama et al.   NATURE GENETICS

Bayesian Test for Colocalisation between Pairs of Genetic Association Studies Using Summary Statistics

(2014) Claudia Giambartolomei et al.   PLoS Genetics

Integrating Functional Data to Prioritize Causal Variants in Statistical Fine-Mapping Studies

(2014) Gleb Kichaev et al.   PLoS Genetics

Incorporating Prior Biologic Information for High-Dimensional Rare Variant Association Studies

(2013) Melanie A. Quintana et al.   HUMAN HEREDITY

Comparing methods for performing trans-ethnic meta-analysis of genome-wide association studies

(2013) Xu Wang et al.   HUMAN MOLECULAR GENETICS

Discovery and refinement of loci associated with lipid levels

(2013) Cristen J Willer et al.   NATURE GENETICS

Genetic insights into common pathways and complex relationships among immune-mediated diseases

(2013) Miles Parkes et al.   NATURE REVIEWS GENETICS

JASPAR 2014: an extensively expanded and updated open-access database of transcription factor binding profiles

(2013) Anthony Mathelier et al.   NUCLEIC ACIDS RESEARCH

Integrative variable selection via Bayesian model uncertainty

(2013) M. A. Quintana et al.   STATISTICS IN MEDICINE

Penalized methods for bi-level variable selection

(2013) Patrick Breheny et al.   Statistics and Its Interface

High Trans-ethnic Replicability of GWAS Results Implies Common Causal Variants

(2013) Urko M. Marigorta et al.   PLoS Genetics

TOMM40 Association With Alzheimer Disease

(2012) Rita J. Guerreiro et al.   ARCHIVES OF NEUROLOGY

Annotation of functional variation in personal genomes using RegulomeDB

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

GENCODE: The reference human genome annotation for The ENCODE Project

(2012) J. Harrow et al.   GENOME RESEARCH

Bayesian refinement of association signals for 14 loci in 3 common diseases

(2012) Julian B Maller et al.   NATURE GENETICS

Chromatin marks identify critical cell types for fine mapping complex trait variants

(2012) Gosia Trynka et al.   NATURE GENETICS

Conditional and joint multiple-SNP analysis of GWAS summary statistics identifies additional variants influencing complex traits

(2012) Jian Yang et al.   NATURE GENETICS

ENCODE Project Writes Eulogy for Junk DNA

(2012) E. Pennisi   SCIENCE

Systematic Localization of Common Disease-Associated Variation in Regulatory DNA

(2012) M. T. Maurano et al.   SCIENCE

The Metabochip, a Custom Genotyping Array for Genetic Studies of Metabolic, Cardiovascular, and Anthropometric Traits

(2012) Benjamin F. Voight et al.   PLoS 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

Random-Effects Model Aimed at Discovering Associations in Meta-Analysis of Genome-wide Association Studies

(2011) Buhm Han et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Bayesian variable selection regression for genome-wide association studies and other large-scale problems

(2011) Yongtao Guan et al.   Annals of Applied Statistics

The effect of genome-wide association scan quality control on imputation outcome for common variants

(2011) Lorraine Southam et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Incorporating model uncertainty in detecting rare variants: the Bayesian risk index

(2011) Melanie A. Quintana et al.   GENETIC EPIDEMIOLOGY

Transethnic meta-analysis of genomewide association studies

(2011) Andrew P. Morris   GENETIC EPIDEMIOLOGY

Consistency of genome-wide associations across major ancestral groups

(2011) Evangelia E. Ntzani et al.   HUMAN GENETICS

Leveraging Genetic Variability across Populations for the Identification of Causal Variants

(2010) Noah Zaitlen et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Bayesian model search and multilevel inference for SNP association studies

(2010) Melanie A. Wilson et al.   Annals of Applied Statistics

LocusZoom: regional visualization of genome-wide association scan results

(2010) R. J. Pruim et al.   BIOINFORMATICS

SNP Selection in genome-wide and candidate gene studies via penalized logistic regression

(2010) Kristin L. Ayers et al.   GENETIC EPIDEMIOLOGY

Common SNPs explain a large proportion of the heritability for human height

(2010) Jian Yang et al.   NATURE GENETICS

Genotype imputation for genome-wide association studies

(2010) Jonathan Marchini et al.   NATURE REVIEWS GENETICS

Genomewide Association Studies and Assessment of the Risk of Disease

(2010) Teri A. Manolio   NEW ENGLAND JOURNAL OF MEDICINE

Trait-Associated SNPs Are More Likely to Be eQTLs: Annotation to Enhance Discovery from GWAS

(2010) Dan L. Nicolae et al.   PLoS Genetics

Genotype Imputation

(2009) Yun Li et al.   Annual Review of Genomics and Human Genetics

Disentangling molecular relationships with a causal inference test

(2009) Joshua Millstein et al.   BMC GENETICS

Characterization of six human disease-associated inversion polymorphisms

(2009) Francesca Antonacci et al.   HUMAN MOLECULAR GENETICS

Genomewide Association Studies and Human Disease

(2009) John Hardy et al.   NEW ENGLAND JOURNAL OF MEDICINE

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

(2008) Itsik Pe'er et al.   GENETIC EPIDEMIOLOGY

Bayes factors for genome-wide association studies: comparison withP-values

(2008) Jon Wakefield   GENETIC EPIDEMIOLOGY

Use and misuse of the gene ontology annotations

(2008) Seung Yon Rhee et al.   NATURE REVIEWS GENETICS

Linkage disequilibrium — understanding the evolutionary past and mapping the medical future

(2008) Montgomery Slatkin   NATURE REVIEWS GENETICS

Simultaneous Analysis of All SNPs in Genome-Wide and Re-Sequencing Association Studies

(2008) Clive J. Hoggart et al.   PLoS Genetics

Practical Issues in Imputation-Based Association Mapping

(2008) Yongtao Guan et al.   PLoS Genetics