Huntsville / Walport / Philadelphia / Bethesda / Durham / Geneva / Seattle / Boston / Baltimore / St Louis / Atlanta / Cambridge / L.A. / New Haven / /
Company
Novartis / Gargis A. S. / Macmillan Publishers Limited. / J.A.S. / Norton / Allen A. S. / Kondrashov A. S. / Lawrence Berkeley National Laboratory / Creative Commons / Humans Using Ensembl Resources / /
Country
Switzerland / United Kingdom / United States / / /
Facility
University of Geneva Medical School / Wellcome Trust Genome Campus / Stanford University / Medical College of Wisconsin / Children’s Hospital / US National Human Genome Research Institute / University of Washington / Institute of Genetics / University of Michigan / University School / Broad Institute of Harvard / Massachusetts General Hospital / Nathans Institute of Genetic Medicine / National Human Genome Research Institute / Wellcome Trust Sanger Institute / University of Chicago / Women’s Hospital / Energy Joint Genome Institute / University of Pennsylvania Perelman School / Baylor College of Medicine / 18HudsonAlpha Institute / Yale University / /
IndustryTerm
protein product / wild-type gene product / online version / Online Mendelian Inheritance / enzyme active site / engineered gene product / prediction algorithms / healthcare providers / search space / interconnected protein network / ethical and logistical solutions / informatic infrastructure / artificial cell culture systems / gene product / gene-discovery applications / organ systems / functional human gene network / Model systems / /
MedicalCondition
human mental retardation / both disease / congenital heart disease / newly implicated disease / monogenic diseases / rare and common genetic disorders / similar disease / Sporadic autism / reported Mendelian disease / TAR syndrome / presumed monogenic disorders / severe disease / Mendelian disease / Inherited Cardiovascular Disease / Kabuki syndrome / schizophrenia / rare / severe diseases / complex diseases / severe monogenic diseases / diabetes / diseases / dilated cardiomyopathy / specific disease / coronary artery disease / epilepsy / metabolic disorder / disorders / H disease / common disease / human disorder / recessive disease / atypical hemolytic-uremic syndrome / developmental disorders / paroxysmal nocturnal hemoglobinuria / thrombocytopenia / human genetic disease / MS / autism spectrum disorders / disease / complex disorders / severe childhood recessive diseases / rare disease / autism / V. K. Disease / tumour / well-established disease / every rare disease / autoimmune disease / monogenic disease / presumed monogenic diseases / human disease / /
MedicalTreatment
mastectomy / /
Organization
Medical College of Wisconsin / Milwaukee / Wellcome Trust Sanger Institute / 30McKusick-Nathans Institute of Genetic Medicine / University of Michigan / Ann Arbor / University of Pennsylvania Perelman School of Medicine / 29Harvard Medical School / Global Alliance for Genomics and Health / Department of Genetics / Marcus Autism Center / Department of Medicine / Analytic and Translational Genetics Unit / Duke University School of Medicine / Washington University School of Medicine / National Institutes of Health office / University of Washington / Seattle / US National Human Genome Research Institute / Harvard Medical School / Translational Genetics Unit / National Institute of Health / C. Large-scale / MIT / Harvard / University of Chicago / Chicago / US National Center for Biotechnology Information / University of Geneva Medical School / Stanford University School of Medicine / Women’s Hospital / Department of Pediatrics / Massachusetts General Hospital / Broad Institute / Children’s Hospital / Yale University / Baylor College of Medicine / Houston / Healthcare Center for Personalized Genetic Medicine / iGE3 Institute of Genetics and Genomics of Geneva / Johns Hopkins University School of Medicine / 18HudsonAlpha Institute for Biotechnology / Stanford University / 26US Department of Energy Joint Genome Institute / RESEARCH PERSPECTIVE committee / 25Genomics Division / /
Person
Connor / /
Position
Author Information Reprints / General / Author / Clinical Director / T. D. / /
ProvinceOrState
Alabama / Connecticut / Washington / Michigan / Missouri / California / Georgia / Texas / New Jersey / Wisconsin / Maryland / Illinois / Pennsylvania / North Carolina / Massachusetts / /
PublishedMedium
PLoS ONE / /
SportsLeague
Stanford University / /
Technology
genotyping / human genome / gene expression / DNA sequencing technologies / genotype / Genomics / Bioinformatics / Biotechnology / prediction algorithms / pdf / DNA sequencing / SNP / /
Guidelines for investigating causality of sequence variants in human disease