CAGI4 Crohn's exome challenge: Marker SNP versus exome variant models for assigning risk of Crohn disease

Inherited determinants of Crohn's disease and ulcerative colitis phenotypes: a genetic association study

(2016) Isabelle Cleynen et al.   LANCET

Analysis of protein-coding genetic variation in 60,706 humans

(2016) Monkol Lek et al.   NATURE

Consensus Genome-Wide Expression Quantitative Trait Loci and Their Relationship with Human Complex Trait Disease

(2016) Chen-Hsin Yu et al.   OMICS-A JOURNAL OF INTEGRATIVE BIOLOGY

Genetic Basis of Common Human Disease: Insight into the Role of Missense SNPs from Genome-Wide Association Studies

(2015) Lipika R. Pal et al.   JOURNAL OF MOLECULAR BIOLOGY

A global reference for human genetic variation

(2015) Richard A. Gibbs et al.   NATURE

Dissecting Allele Architecture of Early Onset IBD Using High-Density Genotyping

(2015) David J. Cutler et al.   PLoS One

The human transcriptome across tissues and individuals

(2015) M. Mele et al.   SCIENCE

Genetics of inflammatory bowel disease from multifactorial to monogenic forms

(2015) Anna Monica Bianco   WORLD JOURNAL OF GASTROENTEROLOGY

GWAS and drug targets

(2014) Chen Cao et al.   BMC GENOMICS

The Diagnostic Approach to Monogenic Very Early Onset Inflammatory Bowel Disease

(2014) Holm H. Uhlig et al.   GASTROENTEROLOGY

Influence of Gene Interaction on Complex Trait Variation with Multilocus Models

(2014) Asko Mäki-Tanila et al.   GENETICS

A general framework for estimating the relative pathogenicity of human genetic variants

(2014) Martin Kircher et al.   NATURE GENETICS

The contribution of genetic variants to disease depends on the ruler

(2014) John S. Witte et al.   NATURE REVIEWS GENETICS

Large Sample Size, Wide Variant Spectrum, and Advanced Machine-Learning Technique Boost Risk Prediction for Inflammatory Bowel Disease

(2013) Zhi Wei et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Monogenic diseases associated with intestinal inflammation: implications for the understanding of inflammatory bowel disease

(2013) Holm H Uhlig   GUT

Population Genetics of Rare Variants and Complex Diseases

(2013) M. Cyrus Maher et al.   HUMAN HEREDITY

RefSeq: an update on mammalian reference sequences

(2013) Kim D. Pruitt et al.   NUCLEIC ACIDS RESEARCH

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

(2013) Danielle Welter et al.   NUCLEIC ACIDS RESEARCH

Functional Consequences of the Macrophage Stimulating Protein 689C Inflammatory Bowel Disease Risk Allele

(2013) Steven E. Kauder et al.   PLoS One

Loss of Interleukin-10 Signaling and Infantile Inflammatory Bowel Disease: Implications for Diagnosis and Therapy

(2012) Daniel Kotlarz et al.   GASTROENTEROLOGY

Host–microbe interactions have shaped the genetic architecture of inflammatory bowel disease

(2012) Luke Jostins et al.   NATURE

Exome sequencing and the genetic basis of complex traits

(2012) Adam Kiezun et al.   NATURE GENETICS

pROC: an open-source package for R and S+ to analyze and compare ROC curves

(2011) Xavier Robin et al.   BMC BIOINFORMATICS

Improved risk prediction for Crohn's disease with a multi-locus approach

(2011) J. Kang et al.   HUMAN MOLECULAR GENETICS

Genetic risk prediction in complex disease

(2011) Luke Jostins et al.   HUMAN MOLECULAR GENETICS

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

(2011) Manuel A Rivas et al.   NATURE GENETICS

A linear complexity phasing method for thousands of genomes

(2011) Olivier Delaneau et al.   NATURE METHODS

Protein Characterization of a Candidate Mechanism SNP for Crohn's Disease: The Macrophage Stimulating Protein R689C Substitution

(2011) Natalia Gorlatova et al.   PLoS One

Genotype Imputation with Thousands of Genomes

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

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

(2010) A. McKenna et al.   GENOME RESEARCH

Estimation of effect size distribution from genome-wide association studies and implications for future discoveries

(2010) Ju-Hyun Park et al.   NATURE GENETICS

Genome-wide meta-analysis increases to 71 the number of confirmed Crohn's disease susceptibility loci

(2010) Andre Franke et al.   NATURE GENETICS

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

Family-based genetic risk prediction of multifactorial disease

(2010) Douglas M Ruderfer et al.   Genome Medicine

The Genetic Interpretation of Area under the ROC Curve in Genomic Profiling

(2010) Naomi R. Wray et al.   PLoS Genetics

The Sequence Alignment/Map format and SAMtools

(2009) H. Li et al.   BIOINFORMATICS

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

Early onset IBD: What's the difference?

(2007) E.E.S. Nieuwenhuis et al.   DIGESTIVE AND LIVER DISEASE