Genomic atlas of the proteome from brain, CSF and plasma prioritizes proteins implicated in neurological disorders

A Multi-tissue Transcriptome Analysis of Human Metabolites Guides Interpretability of Associations Based on Multi-SNP Models for Gene Expression

(2020) Anne Ndungu et al.   AMERICAN JOURNAL OF HUMAN GENETICS

A brief history of human disease genetics

(2020) Melina Claussnitzer et al.   NATURE

Integration of eQTL and a Single-Cell Atlas in the Human Eye Identifies Causal Genes for Age-Related Macular Degeneration

(2020) Luz D. Orozco et al.   Cell Reports

Characterizing the Causal Pathway for Genetic Variants Associated with Neurological Phenotypes Using Human Brain-Derived Proteome Data

(2020) Nelson K. Kibinge et al.   AMERICAN JOURNAL OF HUMAN GENETICS

The single-cell eQTLGen consortium

(2020) MGP van der Wijst et al.   eLife

Exploring and visualizing large-scale genetic associations by using PheWeb

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

Genetics meets proteomics: perspectives for large population-based studies

(2020) Karsten Suhre et al.   NATURE REVIEWS GENETICS

The GTEx Consortium atlas of genetic regulatory effects across human tissues

(2020)   SCIENCE

Elucidating the Contribution of Skeletal Muscle Ion Channels to Amyotrophic Lateral Sclerosis in search of new therapeutic options

(2019) Giulia Maria Camerino et al.   Scientific Reports

Genetic meta-analysis of diagnosed Alzheimer’s disease identifies new risk loci and implicates Aβ, tau, immunity and lipid processing

(2019) Brian W. Kunkle et al.   NATURE GENETICS

GARFIELD classifies disease-relevant genomic features through integration of functional annotations with association signals

(2019) Valentina Iotchkova et al.   NATURE GENETICS

Single-cell transcriptomic analysis of Alzheimer’s disease

(2019) Hansruedi Mathys et al.   NATURE

Multi-tissue transcriptome analyses identify genetic mechanisms underlying neuropsychiatric traits

(2019) Eric R. Gamazon et al.   NATURE GENETICS

PhenoScanner V2: an expanded tool for searching human genotype–phenotype associations

(2019) Mihir A Kamat et al.   BIOINFORMATICS

Overlap in the Genetic Architecture of Stroke Risk, Early Neurological Changes, and Cardiovascular Risk Factors

(2019) Laura Ibanez et al.   STROKE

Genome and epigenome wide studies of neurological protein biomarkers in the Lothian Birth Cohort 1936

(2019) Robert F. Hillary et al.   Nature Communications

A single-nuclei RNA sequencing study of Mendelian and sporadic AD in the human brain

(2019) Jorge L. Del-Aguila et al.   Alzheimers Research & Therapy

Genetic Control of Expression and Splicing in Developing Human Brain Informs Disease Mechanisms

(2019) Rebecca L. Walker et al.   CELL

Identification of novel risk loci, causal insights, and heritable risk for Parkinson's disease: a meta-analysis of genome-wide association studies

(2019) Mike A Nalls et al.   LANCET NEUROLOGY

Plasma protein patterns as comprehensive indicators of health

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

Assessment of the Genetic Architecture of Alzheimer’s Disease Risk in Rate of Memory Decline

(2018) Jorge L. Del-Aguila et al.   JOURNAL OF ALZHEIMERS DISEASE

Multiancestry genome-wide association study of 520,000 subjects identifies 32 loci associated with stroke and stroke subtypes

(2018) Rainer Malik et al.   NATURE GENETICS

The MR-Base platform supports systematic causal inference across the human phenome

(2018) Gibran Hemani et al.   eLife

Genomic atlas of the human plasma proteome

(2018) Benjamin B. Sun et al.   NATURE

Genome‐wide mapping of plasma protein QTLs identifies putatively causal genes and pathways for cardiovascular disease

(2018) Chen Yao et al.   Nature Communications

Flexible statistical methods for estimating and testing effects in genomic studies with multiple conditions

(2018) Sarah M. Urbut et al.   NATURE GENETICS

UniProt: a worldwide hub of protein knowledge

(2018)   NUCLEIC ACIDS RESEARCH

A Common Variant of IL-6R is Associated with Elevated IL-6 Pathway Activity in Alzheimer’s Disease Brains

(2017) Patrick C.G. Haddick et al.   JOURNAL OF ALZHEIMERS DISEASE

Genetic effects on gene expression across human tissues

(2017) François Aguet et al.   NATURE

Multiancestry association study identifies new asthma risk loci that colocalize with immune-cell enhancer marks

(2017) Florence Demenais et al.   NATURE GENETICS

A common haplotype lowers PU.1 expression in myeloid cells and delays onset of Alzheimer's disease

(2017) Kuan-lin Huang et al.   NATURE NEUROSCIENCE

An xQTL map integrates the genetic architecture of the human brain's transcriptome and epigenome

(2017) Bernard Ng et al.   NATURE NEUROSCIENCE

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

(2017) Karsten Suhre et al.   Nature Communications

Mapping of 79 loci for 83 plasma protein biomarkers in cardiovascular disease

(2017) Lasse Folkersen et al.   PLoS Genetics

Genome-wide association analyses identify new risk variants and the genetic architecture of amyotrophic lateral sclerosis

(2016) Wouter van Rheenen et al.   NATURE GENETICS

Genetic studies of plasma analytes identify novel potential biomarkers for several complex traits

(2016) Yuetiva Deming et al.   Scientific Reports

Fast and efficient QTL mapper for thousands of molecular phenotypes

(2015) Halit Ongen et al.   BIOINFORMATICS

The support of human genetic evidence for approved drug indications

(2015) Matthew R Nelson et al.   NATURE GENETICS

Orchestrating high-throughput genomic analysis with Bioconductor

(2015) Wolfgang Huber et al.   NATURE METHODS

Second-generation PLINK: rising to the challenge of larger and richer datasets

(2015) Christopher C Chang et al.   GigaScience

Alzheimer's disease biomarker discovery using SOMAscan multiplexed protein technology

(2014) Martina Sattlecker et al.   Alzheimers & Dementia

circlize implements and enhances circular visualization in R

(2014) Zuguang Gu et al.   BIOINFORMATICS

Frontotemporal dementia and its subtypes: a genome-wide association study

(2014) Raffaele Ferrari et al.   LANCET NEUROLOGY

Genome-Wide Association Study of CSF Levels of 59 Alzheimer's Disease Candidate Proteins: Significant Associations with Proteins Involved in Amyloid Processing and Inflammation

(2014) John S. K. Kauwe et al.   PLoS Genetics

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

(2014) Claudia Giambartolomei et al.   PLoS Genetics

Statistical Testing of Shared Genetic Control for Potentially Related Traits

(2013) Chris Wallace   GENETIC EPIDEMIOLOGY

Cerebrospinal fluid APOE levels: an endophenotype for genetic studies for Alzheimer's disease

(2012) Carlos Cruchaga et al.   HUMAN MOLECULAR GENETICS

Identification of cis-regulatory variation influencing protein abundance levels in human plasma

(2012) Anbarasu Lourdusamy et al.   HUMAN MOLECULAR GENETICS

Large-scale association analysis provides insights into the genetic architecture and pathophysiology of type 2 diabetes

(2012)   NATURE GENETICS

Aptamer-Based Multiplexed Proteomic Technology for Biomarker Discovery

(2011) Larry Gold et al.   PLoS One

The Parkinson Progression Marker Initiative (PPMI)

(2011) Kenneth Marek et al.   PROGRESS IN NEUROBIOLOGY

Clinical Anesthesia, 6th Edition.

(2010) John W. Bethea   ANESTHESIOLOGY

LocusZoom: regional visualization of genome-wide association scan results

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

METAL: fast and efficient meta-analysis of genomewide association scans

(2010) C. J. Willer et al.   BIOINFORMATICS

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

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

AddNeuroMed-The European Collaboration for the Discovery of Novel Biomarkers for Alzheimer's Disease

(2009) Simon Lovestone et al.   Annals of the New York Academy of Sciences

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

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

Rapidly progressive Alzheimer's disease and elevated 14-3-3 proteins in cerebrospinal fluid

(2008) S. Jayaratnam et al.   AGE AND AGEING

Genetic Mapping in Human Disease

(2008) D. Altshuler et al.   SCIENCE

Novel Association of ABO Histo-Blood Group Antigen with Soluble ICAM-1: Results of a Genome-Wide Association Study of 6,578 Women

(2008) Guillaume Paré et al.   PLoS Genetics