Plasma proteome analyses in individuals of European and African ancestry identify cis-pQTLs and models for proteome-wide association studies

Integrating human brain proteomes with genome-wide association data implicates new proteins in Alzheimer’s disease pathogenesis

(2021) Aliza P. Wingo et al.   NATURE GENETICS

A Neanderthal OAS1 isoform protects individuals of European ancestry against COVID-19 susceptibility and severity

(2021) Sirui Zhou et al.   NATURE MEDICINE

Large-scale integration of the plasma proteome with genetics and disease

(2021) Egil Ferkingstad et al.   NATURE GENETICS

Mapping the proteo-genomic convergence of human diseases

(2021) Maik Pietzner et al.   SCIENCE

The mutational constraint spectrum quantified from variation in 141,456 humans

(2020) Konrad J. Karczewski et al.   NATURE

Genome-wide pQTL analysis of protein expression regulatory networks in the human liver

(2020) Bing He et al.   BMC BIOLOGY

A simple new approach to variable selection in regression, with application to genetic fine mapping

(2020) Gao Wang et al.   JOURNAL OF THE ROYAL STATISTICAL SOCIETY SERIES B-STATISTICAL METHODOLOGY

Linking protein to phenotype with Mendelian Randomization detects 38 proteins with causal roles in human diseases and traits

(2020) Andrew D. Bretherick et al.   PLoS Genetics

Phenome-wide Mendelian randomization mapping the influence of the plasma proteome on complex diseases

(2020) Jie Zheng et al.   NATURE GENETICS

The GTEx Consortium atlas of genetic regulatory effects across human tissues

(2020)   SCIENCE

The UCSC Genome Browser database: 2021 update

(2020) Jairo Navarro Gonzalez et al.   NUCLEIC ACIDS RESEARCH

Genetic architecture of host proteins involved in SARS-CoV-2 infection

(2020) Maik Pietzner et al.   Nature Communications

Opportunities and challenges for transcriptome-wide association studies

(2019) Michael Wainberg et al.   NATURE GENETICS

Genetic analyses of diverse populations improves discovery for complex traits

(2019) Genevieve L. Wojcik et al.   NATURE

A global overview of pleiotropy and genetic architecture in complex traits

(2019) Kyoko Watanabe et al.   NATURE GENETICS

Target genes, variants, tissues and transcriptional pathways influencing human serum urate levels

(2019) Adrienne Tin et al.   NATURE GENETICS

Plasma protein patterns as comprehensive indicators of health

(2019) Stephen A. Williams et al.   NATURE MEDICINE

Use of >100,000 NHLBI Trans-Omics for Precision Medicine (TOPMed) Consortium whole genome sequences improves imputation quality and detection of rare variant associations in admixed African and Hispanic/Latino populations

(2019) Madeline H. Kowalski et al.   PLoS Genetics

Evaluating the potential role of pleiotropy in Mendelian randomization studies

(2018) Gibran Hemani et al.   HUMAN MOLECULAR GENETICS

Leveraging molecular quantitative trait loci to understand the genetic architecture of diseases and complex traits

(2018) Farhad Hormozdiari et al.   NATURE GENETICS

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

(2018) Daniel J. Schaid et al.   NATURE REVIEWS GENETICS

Exploring the phenotypic consequences of tissue specific gene expression variation inferred from GWAS summary statistics

(2018) Alvaro N. Barbeira et al.   Nature Communications

Structural absorption by barbule microstructures of super black bird of paradise feathers

(2018) Dakota E. McCoy et al.   Nature Communications

Genomic atlas of the human plasma proteome

(2018) Benjamin B. Sun et al.   NATURE

The UK Biobank resource with deep phenotyping and genomic data

(2018) Clare Bycroft et al.   NATURE

The NHGRI-EBI GWAS Catalog of published genome-wide association studies, targeted arrays and summary statistics 2019

(2018) Annalisa Buniello et al.   NUCLEIC ACIDS RESEARCH

Anakinra for the treatment of acute gout flares: a randomized, double-blind, placebo-controlled, active-comparator, non-inferiority trial

(2018) Carly A Janssen et al.   RHEUMATOLOGY

Genetic effects on gene expression across human tissues

(2017) François Aguet et al.   NATURE

The druggable genome and support for target identification and validation in drug development

(2017) Chris Finan et al.   Science Translational Medicine

A complete tool set for molecular QTL discovery and analysis

(2017) Olivier Delaneau et al.   Nature Communications

Connecting genetic risk to disease end points through the human blood plasma proteome

(2017) Karsten Suhre et al.   Nature Communications

Molecular QTL discovery incorporating genomic annotations using Bayesian false discovery rate control

(2016) Xiaoquan Wen   Annals of Applied Statistics

The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease

(2016) William J. Astle et al.   CELL

Integrative approaches for large-scale transcriptome-wide association studies

(2016) Alexander Gusev et al.   NATURE GENETICS

Fast and efficient QTL mapper for thousands of molecular phenotypes

(2015) Halit Ongen et al.   BIOINFORMATICS

Non-coding genetic variants in human disease: Figure 1.

(2015) Feng Zhang et al.   HUMAN MOLECULAR GENETICS

A global reference for human genetic variation

(2015) Richard A. Gibbs et al.   NATURE

A gene-based association method for mapping traits using reference transcriptome data

(2015) Eric R Gamazon et al.   NATURE GENETICS

Making sense of GWAS: using epigenomics and genome engineering to understand the functional relevance of SNPs in non-coding regions of the human genome

(2015) Yu Gyoung Tak et al.   Epigenetics & Chromatin

The Ensembl Regulatory Build

(2015) Daniel R Zerbino et al.   GENOME BIOLOGY

Structural determinants of human ζ-globin mRNA stability

(2014) Zhenning He et al.   Journal of Hematology & Oncology

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

(2014) Claudia Giambartolomei et al.   PLoS Genetics

The Genotype-Tissue Expression (GTEx) project

(2013) John Lonsdale et al.   NATURE GENETICS

Human Disease-Associated Genetic Variation Impacts Large Intergenic Non-Coding RNA Expression

(2013) Vinod Kumar et al.   PLoS Genetics

Genome-wide association analyses identify 18 new loci associated with serum urate concentrations

(2012) Anna Köttgen 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

Using probabilistic estimation of expression residuals (PEER) to obtain increased power and interpretability of gene expression analyses

(2012) Oliver Stegle et al.   Nature Protocols

Transethnic meta-analysis of genomewide association studies

(2011) Andrew P. Morris   GENETIC EPIDEMIOLOGY

Aptamer-Based Multiplexed Proteomic Technology for Biomarker Discovery

(2011) Larry Gold et al.   PLoS One

Distribution of allele frequencies and effect sizes and their interrelationships for common genetic susceptibility variants

(2011) J.-H. Park et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

GCTA: A Tool for Genome-wide Complex Trait Analysis

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

From noncoding variant to phenotype via SORT1 at the 1p13 cholesterol locus

(2010) Kiran Musunuru et al.   NATURE

A Bayesian Framework to Account for Complex Non-Genetic Factors in Gene Expression Levels Greatly Increases Power in eQTL Studies

(2010) Oliver Stegle et al.   PLoS Computational Biology

A Flexible and Accurate Genotype Imputation Method for the Next Generation of Genome-Wide Association Studies

(2009) Bryan N. Howie et al.   PLoS Genetics

A Multicenter Trial of the Effectiveness of ζ-Globin Enzyme-Linked Immunosorbent Assay and Hemoglobin H Inclusion Body Screening for the Detection of α0-Thalassemia Trait

(2008) John D. Lafferty et al.   AMERICAN JOURNAL OF CLINICAL PATHOLOGY