GWAS for systemic sclerosis identifies multiple risk loci and highlights fibrotic and vasculopathy pathways

Natural Killer Cells Exhibit a Peculiar Phenotypic Profile in Systemic Sclerosis and Are Potent Inducers of Endothelial Microparticles Release

(2018) Audrey Benyamine et al.   Frontiers in Immunology

Open Targets Platform: new developments and updates two years on

(2018) Denise Carvalho-Silva et al.   NUCLEIC ACIDS RESEARCH

Rab2 promotes autophagic and endocytic lysosomal degradation

(2017) Péter Lőrincz et al.   JOURNAL OF CELL BIOLOGY

Systemic sclerosis

(2017) Christopher P Denton et al.   LANCET

Enhancer connectome in primary human cells identifies target genes of disease-associated DNA elements

(2017) Maxwell R Mumbach et al.   NATURE GENETICS

Gene polymorphism linked to increased asthma and IBD risk alters gasdermin-B structure, a sulfatide and phosphoinositide binding protein

(2017) Kinlin L. Chao et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Functional mapping and annotation of genetic associations with FUMA

(2017) Kyoko Watanabe et al.   Nature Communications

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

(2016) Gleb Kichaev et al.   BIOINFORMATICS

CHiCP: a web-based tool for the integrative and interactive visualization of promoter capture Hi-C datasets

(2016) E. C. Schofield et al.   BIOINFORMATICS

Lineage-Specific Genome Architecture Links Enhancers and Non-coding Disease Variants to Target Gene Promoters

(2016) Biola M. Javierre et al.   CELL

Pore-forming activity and structural autoinhibition of the gasdermin family

(2016) Jingjin Ding et al.   NATURE

Discovery and refinement of genetic loci associated with cardiometabolic risk using dense imputation maps

(2016) Valentina Iotchkova et al.   NATURE GENETICS

HiChIP: efficient and sensitive analysis of protein-directed genome architecture

(2016) Maxwell R Mumbach et al.   NATURE METHODS

The future is CD56-bright

(2016) Caroline Barranco   Nature Reviews Rheumatology

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

(2016) Jacqueline MacArthur et al.   NUCLEIC ACIDS RESEARCH

Brief Report: IRF4 Newly Identified as a Common Susceptibility Locus for Systemic Sclerosis and Rheumatoid Arthritis in a Cross-Disease Meta-Analysis of Genome-Wide Association Studies

(2016) Elena López-Isac et al.   Arthritis & Rheumatology

Juicebox Provides a Visualization System for Hi-C Contact Maps with Unlimited Zoom

(2016) Neva C. Durand et al.   Cell Systems

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

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

LDlink: a web-based application for exploring population-specific haplotype structure and linking correlated alleles of possible functional variants: Fig. 1.

(2015) Mitchell J. Machiela et al.   BIOINFORMATICS

Epigenomics of autoimmune diseases

(2015) Bhawna Gupta et al.   IMMUNOLOGY AND CELL BIOLOGY

Immunogenetics of systemic sclerosis: Defining heritability, functional variants and shared-autoimmunity pathways

(2015) Lara Bossini-Castillo et al.   JOURNAL OF AUTOIMMUNITY

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

Large-scale imputation of epigenomic datasets for systematic annotation of diverse human tissues

(2015) Jason Ernst et al.   NATURE BIOTECHNOLOGY

The support of human genetic evidence for approved drug indications

(2015) Matthew R Nelson et al.   NATURE GENETICS

Mapping long-range promoter contacts in human cells with high-resolution capture Hi-C

(2015) Borbala Mifsud et al.   NATURE GENETICS

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

(2015) et al.   SCIENCE

Capture Hi-C reveals novel candidate genes and complex long-range interactions with related autoimmune risk loci

(2015) Paul Martin et al.   Nature Communications

Biological interpretation of genome-wide association studies using predicted gene functions

(2015) Tune H. Pers et al.   Nature Communications

Immunochip Analysis Identifies Multiple Susceptibility Loci for Systemic Sclerosis

(2014) Maureen D. Mayes et al.   AMERICAN JOURNAL OF HUMAN GENETICS

A 3D Map of the Human Genome at Kilobase Resolution Reveals Principles of Chromatin Looping

(2014) Suhas S.P. Rao et al.   CELL

Statistical confidence estimation for Hi-C data reveals regulatory chromatin contacts

(2014) F. Ay et al.   GENOME RESEARCH

Statistical power and significance testing in large-scale genetic studies

(2014) Pak C. Sham et al.   NATURE REVIEWS GENETICS

An Immunochip-based interrogation of scleroderma susceptibility variants identifies a novel association at DNASE1L3

(2014) Jane Zochling et al.   ARTHRITIS RESEARCH & THERAPY

A systemic sclerosis and systemic lupus erythematosus pan-meta-GWAS reveals new shared susceptibility loci

(2013) Jose-Ezequiel Martin et al.   HUMAN MOLECULAR GENETICS

Identification of DEAD-box RNA Helicase 6 (DDX6) as a Cellular Modulator of Vascular Endothelial Growth Factor Expression under Hypoxia

(2013) Sebastian de Vries et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Genetics of rheumatoid arthritis contributes to biology and drug discovery

(2013) Yukinori Okada et al.   NATURE

Transcriptome and genome sequencing uncovers functional variation in humans

(2013) Tuuli Lappalainen et al.   NATURE

Systematic identification of trans eQTLs as putative drivers of known disease associations

(2013) Harm-Jan Westra et al.   NATURE GENETICS

Epidemiology of systemic sclerosis

(2012) Jammie Barnes et al.   CURRENT OPINION IN RHEUMATOLOGY

Genome-Wide Association Study Identifies Variants Associated With Progression of Liver Fibrosis From HCV Infection

(2012) Etienne Patin et al.   GASTROENTEROLOGY

GENCODE: The reference human genome annotation for The ENCODE Project

(2012) J. Harrow et al.   GENOME RESEARCH

wANNOVAR: annotating genetic variants for personal genomes via the web

(2012) Xiao Chang et al.   JOURNAL OF MEDICAL GENETICS

An integrated encyclopedia of DNA elements in the human genome

(2012)   NATURE

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

SIFT web server: predicting effects of amino acid substitutions on proteins

(2012) Ngak-Leng Sim et al.   NUCLEIC ACIDS RESEARCH

Genetic risk and a primary role for cell-mediated immune mechanisms in multiple sclerosis

(2011) Stephen Sawcer et al.   NATURE

HaploReg: a resource for exploring chromatin states, conservation, and regulatory motif alterations within sets of genetically linked variants

(2011) L. D. Ward et al.   NUCLEIC ACIDS RESEARCH

Identification of Novel Genetic Markers Associated with Clinical Phenotypes of Systemic Sclerosis through a Genome-Wide Association Strategy

(2011) Olga Gorlova et al.   PLoS Genetics

Genome-Wide Scan Identifies TNIP1, PSORS1C1, and RHOB as Novel Risk Loci for Systemic Sclerosis

(2011) Yannick Allanore et al.   PLoS Genetics

Genome-wide association study of systemic sclerosis identifies CD247 as a new susceptibility locus

(2010) Timothy R D J Radstake et al.   NATURE GENETICS

Caucasian-specific allele in non-synonymous single nucleotide polymorphisms of the gene encoding deoxyribonuclease I-like 3, potentially relevant to autoimmunity, produces an inactive enzyme

(2009) Misuzu Ueki et al.   CLINICA CHIMICA ACTA

Scleroderma

(2009) Armando Gabrielli et al.   NEW ENGLAND JOURNAL OF MEDICINE

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

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