Whole-genome sequencing identifies complex contributions to genetic risk by variants in genes causing monogenic systemic lupus erythematosus

A benchmark study of scoring methods for non-coding mutations

(2018) Damien Drubay et al.   BIOINFORMATICS

Whole‑genome sequencing of a monozygotic twin discordant for systemic lupus erythematosus

(2018) Fei Chen et al.   Molecular Medicine Reports

Whole Exome Sequencing of Patients from Multicase Families with Systemic Lupus Erythematosus Identifies Multiple Rare Variants

(2018) Angélica M. Delgado-Vega et al.   Scientific Reports

SweGen: a whole-genome data resource of genetic variability in a cross-section of the Swedish population

(2017) Adam Ameur et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

De novo mutations implicate novel genes in systemic lupus erythematosus

(2017) Venu Pullabhatla et al.   HUMAN MOLECULAR GENETICS

The contribution of rare variants to risk of schizophrenia in individuals with and without intellectual disability

(2017) Tarjinder Singh et al.   NATURE GENETICS

Host DNases prevent vascular occlusion by neutrophil extracellular traps

(2017) Miguel Jiménez-Alcázar et al.   SCIENCE

Transancestral mapping and genetic load in systemic lupus erythematosus

(2017) Carl D. Langefeld et al.   Nature Communications

Novel risk genes for systemic lupus erythematosus predicted by random forest classification

(2017) Jonas Carlsson Almlöf et al.   Scientific Reports

New insights into the immunopathogenesis of systemic lupus erythematosus

(2016) George C. Tsokos et al.   Nature Reviews Rheumatology

C1q Deficiency and Neuropsychiatric Systemic Lupus Erythematosus

(2016) Rosanne A. van Schaarenburg et al.   Frontiers in Immunology

Genomic risk prediction of complex human disease and its clinical application

(2015) Gad Abraham et al.   CURRENT OPINION IN GENETICS & DEVELOPMENT

A global reference for human genetic variation

(2015) Richard A. Gibbs et al.   NATURE

Systemic Lupus Erythematosus - A Disease with A Dysregulated Type I Interferon System

(2015) N. Hagberg et al.   SCANDINAVIAN JOURNAL OF IMMUNOLOGY

DANN: a deep learning approach for annotating the pathogenicity of genetic variants

(2014) Daniel Quang et al.   BIOINFORMATICS

Defective removal of ribonucleotides from DNA promotes systemic autoimmunity

(2014) Claudia Günther et al.   JOURNAL OF CLINICAL INVESTIGATION

Genetic and epigenetic fine mapping of causal autoimmune disease variants

(2014) Kyle Kai-How Farh et al.   NATURE

Structural basis of the C1q/C1s interaction and its central role in assembly of the C1 complex of complement activation

(2013) Umakhanth Venkatraman Girija et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

The Structure of Human DNase I Bound to Magnesium and Phosphate Ions Points to a Catalytic Mechanism Common to Members of the DNase I-like Superfamily

(2012) Goetz Parsiegla et al.   BIOCHEMISTRY

Structural Basis for dsRNA Recognition, Filament Formation, and Antiviral Signal Activation by MDA5

(2012) Bin Wu et al.   CELL

Heritability versus the role of the environment in autoimmunity

(2012) Carlo Selmi et al.   JOURNAL OF AUTOIMMUNITY

Apoptotic DNA Fragmentation May Be a Cooperative Activity between Caspase-activated Deoxyribonuclease and the Poly(ADP-ribose) Polymerase-regulated DNAS1L3, an Endoplasmic Reticulum-localized Endonuclease That Translocates to the Nucleus during Apoptosis

(2012) Youssef Errami et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

ChromHMM: automating chromatin-state discovery and characterization

(2012) Jason Ernst et al.   NATURE METHODS

Rare-Variant Association Testing for Sequencing Data with the Sequence Kernel Association Test

(2011) Michael C. Wu et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Evaluation of the TREX1 gene in a large multi-ancestral lupus cohort

(2011) B Namjou et al.   GENES AND IMMUNITY

Molecular basis of hereditary C1q deficiency—revisited: identification of several novel disease-causing mutations

(2011) L Schejbel et al.   GENES AND IMMUNITY

Rare and functional SIAE variants are not associated with autoimmune disease risk in up to 66,924 individuals of European ancestry

(2011) Karen A Hunt et al.   NATURE GENETICS

Promise and pitfalls of the Immunochip

(2011) Adrian Cortes et al.   ARTHRITIS RESEARCH & THERAPY

The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data

(2010) A. McKenna et al.   GENOME RESEARCH

A Data-Adaptive Sum Test for Disease Association with Multiple Common or Rare Variants

(2010) Fang Han et al.   HUMAN HEREDITY

Functionally defective germline variants of sialic acid acetylesterase in autoimmunity

(2010) Ira Surolia et al.   NATURE

A method and server for predicting damaging missense mutations

(2010) Ivan A Adzhubei et al.   NATURE METHODS

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

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

Fast and accurate short read alignment with Burrows-Wheeler transform

(2009) H. Li et al.   BIOINFORMATICS

Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm

(2009) Prateek Kumar et al.   Nature Protocols

Potential etiologic and functional implications of genome-wide association loci for human diseases and traits

(2009) L. A. Hindorff et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA