A mega-analysis of expression quantitative trait loci (eQTL) provides insight into the regulatory architecture of gene expression variation in liver

HDL-cholesterol levels and risk of age-related macular degeneration: a multiethnic genetic study using Mendelian randomization

(2017) Qiao Fan et al.   INTERNATIONAL JOURNAL OF EPIDEMIOLOGY

Genome-wide association study of alcohol consumption and genetic overlap with other health-related traits in UK Biobank (N=112 117)

(2017) T-K Clarke et al.   MOLECULAR PSYCHIATRY

Mendelian Randomization Implicates High-Density Lipoprotein Cholesterol–Associated Mechanisms in Etiology of Age-Related Macular Degeneration

(2017) Stephen Burgess et al.   OPHTHALMOLOGY

A novel, multiplexed targeted mass spectrometry assay for quantification of complement factor H (CFH) variants and CFH-related proteins 1-5 in human plasma

(2017) Pingbo Zhang et al.   PROTEOMICS

Genetic pleiotropy between age-related macular degeneration and 16 complex diseases and traits

(2017) Felix Grassmann et al.   Genome Medicine

Recombinant Haplotypes Narrow the ARMS2/HTRA1 Association Signal for Age-Related Macular Degeneration

(2016) Felix Grassmann et al.   GENETICS

Multiallelic copy number variation in the complement component 4A (C4A) gene is associated with late-stage age-related macular degeneration (AMD)

(2016) Felix Grassmann et al.   Journal of Neuroinflammation

Recombinant Haplotypes Narrow the ARMS2/HTRA1 Association Signal for Age-Related Macular Degeneration

(2016) Felix Grassmann et al.   GENETICS

Complement Regulator FHR-3 Is Elevated either Locally or Systemically in a Selection of Autoimmune Diseases

(2016) Nicole Schäfer et al.   Frontiers in Immunology

Complement Factor H-Related Protein 3 Serum Levels Are Low Compared to Factor H and Mainly Determined by Gene Copy Number Variation in CFHR3

(2016) Richard B. Pouw et al.   PLoS One

The genetics of age-related macular degeneration (AMD) – Novel targets for designing treatment options?

(2015) Felix Grassmann et al.   EUROPEAN JOURNAL OF PHARMACEUTICS AND BIOPHARMACEUTICS

A large genome-wide association study of age-related macular degeneration highlights contributions of rare and common variants

(2015) Lars G Fritsche et al.   NATURE GENETICS

Reference sequence (RefSeq) database at NCBI: current status, taxonomic expansion, and functional annotation

(2015) Nuala A. O'Leary et al.   NUCLEIC ACIDS RESEARCH

Ensembl 2016

(2015) Andrew Yates et al.   NUCLEIC ACIDS RESEARCH

Performance of Genotype Imputation for Low Frequency and Rare Variants from the 1000 Genomes

(2015) Hou-Feng Zheng et al.   PLoS One

The Genotype-Tissue Expression (GTEx) pilot analysis: Multitissue gene regulation in humans

(2015) et al.   SCIENCE

Tissue-Specific Effects of Genetic and Epigenetic Variation on Gene Regulation and Splicing

(2015) Maria Gutierrez-Arcelus et al.   PLoS Genetics

Conducting Meta-Analyses inRwith themetaforPackage

(2015) Wolfgang Viechtbauer   Journal of Statistical Software

Re-Annotator: Annotation Pipeline for Microarray Probe Sequences

(2015) Janine Arloth et al.   PLoS One

Lipids, Lipid Genes, and Incident Age-Related Macular Degeneration: The Three Continent Age-Related Macular Degeneration Consortium

(2014) Ronald Klein et al.   AMERICAN JOURNAL OF OPHTHALMOLOGY

Cholesteryl Ester Transfer Protein (CETP) Deficiency and CETP Inhibitors

(2014) Hiroshi Mabuchi et al.   MOLECULES AND CELLS

Heritability and genomics of gene expression in peripheral blood

(2014) Fred A Wright et al.   NATURE GENETICS

The UCSC Genome Browser database: 2015 update

(2014) Kate R. Rosenbloom et al.   NUCLEIC ACIDS RESEARCH

Elevated High-Density Lipoprotein Cholesterol and Age-Related Macular Degeneration: The Alienor Study

(2014) Audrey Cougnard-Grégoire et al.   PLoS One

Large-Scale East-Asian eQTL Mapping Reveals Novel Candidate Genes for LD Mapping and the Genomic Landscape of Transcriptional Effects of Sequence Variants

(2014) Maiko Narahara et al.   PLoS One

Mapping the Genetic Architecture of Gene Regulation in Whole Blood

(2014) Katharina Schramm et al.   PLoS One

Discovery and refinement of loci associated with lipid levels

(2013) Cristen J Willer et al.   NATURE GENETICS

Resolving the polymorphism-in-probe problem is critical for correct interpretation of expression QTL studies

(2013) Adaikalavan Ramasamy et al.   NUCLEIC ACIDS RESEARCH

The NHGRI GWAS Catalog, a curated resource of SNP-trait associations

(2013) Danielle Welter et al.   NUCLEIC ACIDS RESEARCH

NCBI’s Database of Genotypes and Phenotypes: dbGaP

(2013) Kimberly A. Tryka et al.   NUCLEIC ACIDS RESEARCH

20/20--Alcohol and Age-related Macular Degeneration: The Melbourne Collaborative Cohort Study

(2012) M. K. M. Adams et al.   AMERICAN JOURNAL OF EPIDEMIOLOGY

Phasing of Many Thousands of Genotyped Samples

(2012) Amy L. Williams et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Matrix eQTL: ultra fast eQTL analysis via large matrix operations

(2012) A. A. Shabalin   BIOINFORMATICS

A high-performance computing toolset for relatedness and principal component analysis of SNP data

(2012) X. Zheng et al.   BIOINFORMATICS

Annotation of functional variation in personal genomes using RegulomeDB

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

An integrated map of genetic variation from 1,092 human genomes

(2012)   NATURE

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

(2012) Julian B Maller et al.   NATURE GENETICS

NCBI GEO: archive for functional genomics data sets—update

(2012) Tanya Barrett et al.   NUCLEIC ACIDS RESEARCH

Modelling the Genetic Risk in Age-Related Macular Degeneration

(2012) Felix Grassmann et al.   PLoS One

Patterns of Cis Regulatory Variation in Diverse Human Populations

(2012) Barbara E. Stranger et al.   PLoS Genetics

The variant call format and VCFtools

(2011) P. Danecek et al.   BIOINFORMATICS

Meta-analysis and Combining Information in Genetics and Genomics edited by Rudy Guerra, Darlene R. Goldstein

(2011) Martin Crowder   INTERNATIONAL STATISTICAL REVIEW

Genome-wide association study identifies two susceptibility loci for exudative age-related macular degeneration in the Japanese population

(2011) Satoshi Arakawa et al.   NATURE GENETICS

A linear complexity phasing method for thousands of genomes

(2011) Olivier Delaneau et al.   NATURE METHODS

Genomics of ADME gene expression: mapping expression quantitative trait loci relevant for absorption, distribution, metabolism and excretion of drugs in human liver

(2011) A Schröder et al.   PHARMACOGENOMICS JOURNAL

Genotype Imputation with Thousands of Genomes

(2011) Bryan Howie et al.   G3-Genes Genomes Genetics

Identification, Replication, and Functional Fine-Mapping of Expression Quantitative Trait Loci in Primary Human Liver Tissue

(2011) Federico Innocenti et al.   PLoS Genetics

Deriving the consequences of genomic variants with the Ensembl API and SNP Effect Predictor

(2010) William McLaren et al.   BIOINFORMATICS

Mapping complex disease traits with global gene expression

(2009) William Cookson et al.   NATURE REVIEWS GENETICS

High HDL cholesterol does not protect against coronary artery disease when associated with combined cholesteryl ester transfer protein and hepatic lipase gene variants

(2008) Bernadette A.C. van Acker et al.   ATHEROSCLEROSIS

Liver lipid metabolism

(2008) P. Nguyen et al.   JOURNAL OF ANIMAL PHYSIOLOGY AND ANIMAL NUTRITION

Mapping the Genetic Architecture of Gene Expression in Human Liver

(2008) Eric E Schadt et al.   PLOS BIOLOGY