Computational evaluation of exome sequence data using human and model organism phenotypes improves diagnostic efficiency

York platelet syndrome is a CRAC channelopathy due to gain-of-function mutations in STIM1

(2015) Thomas Markello et al.   MOLECULAR GENETICS AND METABOLISM

Phevor Combines Multiple Biomedical Ontologies for Accurate Identification of Disease-Causing Alleles in Single Individuals and Small Nuclear Families

(2014) Marc V. Singleton et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Walking the interactome for candidate prioritization in exome sequencing studies of Mendelian diseases

(2014) D. Smedley et al.   BIOINFORMATICS

PhenoVar: a phenotype-driven approach in clinical genomics for the diagnosis of polymalformative syndromes

(2014) Yannis J Trakadis et al.   BMC Medical Genomics

Phen-Gen: combining phenotype and genotype to analyze rare disorders

(2014) Asif Javed et al.   NATURE METHODS

Effective diagnosis of genetic disease by computational phenotype analysis of the disease-associated genome

(2014) T. Zemojtel et al.   Science Translational Medicine

Recurrent subacute post-viral onset of ataxia associated with a PRF1 mutation

(2013) Cristina Dias et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Improved exome prioritization of disease genes through cross-species phenotype comparison

(2013) P. N. Robinson et al.   GENOME RESEARCH

PhenoTips: Patient Phenotyping Software for Clinical and Research Use

(2013) Marta Girdea et al.   HUMAN MUTATION

A systematic genome-wide analysis of zebrafish protein-coding gene function

(2013) Ross N. W. Kettleborough et al.   NATURE

eXtasy: variant prioritization by genomic data fusion

(2013) Alejandro Sifrim et al.   NATURE METHODS

Novel SNP array analysis and exome sequencing detect a homozygous exon 7 deletion of MEGF10 causing early onset myopathy, areflexia, respiratory distress and dysphagia (EMARDD)

(2013) Tyler Mark Pierson et al.   NEUROMUSCULAR DISORDERS

The Human Phenotype Ontology project: linking molecular biology and disease through phenotype data

(2013) Sebastian Köhler et al.   NUCLEIC ACIDS RESEARCH

Comprehensive Characterization of Human Genome Variation by High Coverage Whole-Genome Sequencing of Forty Four Caucasians

(2013) Hui Shen et al.   PLoS One

PhenoDigm: analyzing curated annotations to associate animal models with human diseases

(2013) D. Smedley et al.   Database-The Journal of Biological Databases and Curation

Phenotypic overlap in the contribution of individual genes to CNV pathogenicity revealed by cross-species computational analysis of single-gene mutations in humans, mice and zebrafish

(2012) S. C. Doelken et al.   Disease Models & Mechanisms

The National Institutes of Health Undiagnosed Diseases Program: insights into rare diseases

(2012) William A. Gahl et al.   GENETICS IN MEDICINE

Mouse large-scale phenotyping initiatives: overview of the European Mouse Disease Clinic (EUMODIC) and of the Wellcome Trust Sanger Institute Mouse Genetics Project

(2012) Abdel Ayadi et al.   MAMMALIAN GENOME

STRING v9.1: protein-protein interaction networks, with increased coverage and integration

(2012) Andrea Franceschini et al.   NUCLEIC ACIDS RESEARCH

A Systematic Survey of Loss-of-Function Variants in Human Protein-Coding Genes

(2012) D. G. MacArthur et al.   SCIENCE

The NIH Undiagnosed Diseases Program

(2011) William A. Gahl   JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION

Systematic comparison of three genomic enrichment methods for massively parallel DNA sequencing

(2010) J. K. Teer et al.   GENOME RESEARCH

Solution hybrid selection with ultra-long oligonucleotides for massively parallel targeted sequencing

(2009) Andreas Gnirke et al.   NATURE BIOTECHNOLOGY

Linking Human Diseases to Animal Models Using Ontology-Based Phenotype Annotation

(2009) Nicole L. Washington et al.   PLOS BIOLOGY

Walking the Interactome for Prioritization of Candidate Disease Genes

(2008) Sebastian Köhler et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Accurate whole human genome sequencing using reversible terminator chemistry

(2008) David R. Bentley et al.   NATURE