Targeted exon sequencing fails to identify rare coding variants with large effect in rheumatoid arthritis

Ethnic specificity of lupus-associated loci identified in a genome-wide association study in Korean women

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Negligible impact of rare autoimmune-locus coding-region variants on missing heritability

(2013) Karen A. Hunt et al.   NATURE

Genetics and epigenetics of rheumatoid arthritis

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Optimal Unified Approach for Rare-Variant Association Testing with Application to Small-Sample Case-Control Whole-Exome Sequencing Studies

(2012) Seunggeun Lee et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Rare, Low-Frequency, and Common Variants in the Protein-Coding Sequence of Biological Candidate Genes from GWASs Contribute to Risk of Rheumatoid Arthritis

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VSTM1-v2, a novel soluble glycoprotein, promotes the differentiation and activation of Th17 cells

(2012) Xiaohuan Guo et al.   CELLULAR IMMUNOLOGY

A Combined Functional Annotation Score for Non-Synonymous Variants

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Exome sequencing and complex disease: practical aspects of rare variant association studies

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High-density genetic mapping identifies new susceptibility loci for rheumatoid arthritis

(2012) Steve Eyre et al.   NATURE GENETICS

Five amino acids in three HLA proteins explain most of the association between MHC and seropositive rheumatoid arthritis

(2012) Soumya Raychaudhuri et al.   NATURE GENETICS

Meta-analysis identifies nine new loci associated with rheumatoid arthritis in the Japanese population

(2012) Yukinori Okada et al.   NATURE GENETICS

Bayesian inference analyses of the polygenic architecture of rheumatoid arthritis

(2012) Eli A Stahl et al.   NATURE GENETICS

Rare MTNR1B variants impairing melatonin receptor 1B function contribute to type 2 diabetes

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A General Framework for Detecting Disease Associations with Rare Variants in Sequencing Studies

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Genome-wide association study of rheumatoid arthritis in Koreans: Population-specific loci as well as overlap with European susceptibility loci

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Deep resequencing of GWAS loci identifies independent rare variants associated with inflammatory bowel disease

(2011) Manuel A Rivas et al.   NATURE GENETICS

A framework for variation discovery and genotyping using next-generation DNA sequencing data

(2011) Mark A DePristo et al.   NATURE GENETICS

Meta-Analysis of Genome-Wide Association Studies in Celiac Disease and Rheumatoid Arthritis Identifies Fourteen Non-HLA Shared Loci

(2011) Alexandra Zhernakova et al.   PLoS Genetics

Testing for an Unusual Distribution of Rare Variants

(2011) Benjamin M. Neale et al.   PLoS Genetics

Fast and accurate long-read alignment with Burrows–Wheeler transform

(2010) Heng Li et al.   BIOINFORMATICS

Recent advances in the genetics of rheumatoid arthritis

(2010) Soumya Raychaudhuri   CURRENT OPINION IN RHEUMATOLOGY

Rheumatoid arthritis

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Resequencing of positional candidates identifies low frequency IL23R coding variants protecting against inflammatory bowel disease

(2010) Yukihide Momozawa et al.   NATURE GENETICS

Genome-wide association study meta-analysis identifies seven new rheumatoid arthritis risk loci

(2010) Eli A Stahl et al.   NATURE GENETICS

A method and server for predicting damaging missense mutations

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The Sequence Alignment/Map format and SAMtools

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Rare Variants of IFIH1, a Gene Implicated in Antiviral Responses, Protect Against Type 1 Diabetes

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