Crohn disease risk prediction-Best practices and pitfalls with exome data

BOOGIE: Predicting Blood Groups from High Throughput Sequencing Data

(2015) Manuel Giollo et al.   PLoS One

VariantAnnotation: a Bioconductor package for exploration and annotation of genetic variants

(2014) V. Obenchain et al.   BIOINFORMATICS

NeEMO: a method using residue interaction networks to improve prediction of protein stability upon mutation

(2014) Manuel Giollo et al.   BMC GENOMICS

Guidelines for investigating causality of sequence variants in human disease

(2014) D. G. MacArthur et al.   NATURE

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

GWAS Central: a comprehensive resource for the comparison and interrogation of genome-wide association studies

(2013) Tim Beck et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Phenotype–Genotype Integrator (PheGenI): synthesizing genome-wide association study (GWAS) data with existing genomic resources

(2013) Erin M Ramos et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Association Between Variants of PRDM1 and NDP52 and Crohn's Disease, Based on Exome Sequencing and Functional Studies

(2013) David Ellinghaus et al.   GASTROENTEROLOGY

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

(2012)   NATURE

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

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

Performance of mutation pathogenicity prediction methods on missense variants

(2011) Janita Thusberg et al.   HUMAN MUTATION

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

(2011) Mark A DePristo et al.   NATURE GENETICS

NOD2 Gene Polymorphism rs2066844 Associates With Need for Combined Liver–Intestine Transplantation in Children With Short-Gut Syndrome

(2010) Mylarappa Ningappa et al.   AMERICAN JOURNAL OF GASTROENTEROLOGY

A genome-wide association study identifies new psoriasis susceptibility loci and an interaction between HLA-C and ERAP1

(2010) Amy Strange 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

The STRING database in 2011: functional interaction networks of proteins, globally integrated and scored

(2010) D. Szklarczyk et al.   NUCLEIC ACIDS RESEARCH

Phenopedia and Genopedia: disease-centered and gene-centered views of the evolving knowledge of human genetic associations

(2009) W. Yu et al.   BIOINFORMATICS

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

Semi-Supervised Learning (Chapelle, O. et al., Eds.; 2006) [Book reviews]

(2009) O. Chapelle et al.   IEEE TRANSACTIONS ON NEURAL NETWORKS

Mapping identifiers for the integration of genomic datasets with the R/Bioconductor package biomaRt

(2009) Steffen Durinck et al.   Nature Protocols

Data clustering: 50 years beyond K-means

(2009) Anil K. Jain   PATTERN RECOGNITION LETTERS

Genome-wide association defines more than 30 distinct susceptibility loci for Crohn's disease

(2008) Jeffrey C Barrett et al.   NATURE GENETICS