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Genetics / Molecular biology / Medical informatics / Genomics / International standards / Electronic health record / Full genome sequencing / Exome sequencing / Electronic medical record / Biology / Health / Health informatics


Original Research Article © American College of Medical Genetics and Genomics A survey of informatics approaches to wholeexome and whole-genome clinical reporting in the electronic health record
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Document Date: 2013-10-31 14:22:21


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File Size: 401,64 KB

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City

Santa Clara / Houston / Philadelphia / Memphis / Diego / Bethesda / Washington / Seattle / Rockville / Boston / Cambridge / San Diego / L.A. / /

Company

Electronic Medical Records Working Group / Cerner Corporation / CSER Medical Record Working Group / Agency for Healthcare Research / Partners HealthCare / CSER Electronic Medical Record Working Group / Epic Corporation / /

Country

United States / /

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Facility

CYP2C9.28 St Jude Hospital / Farber Cancer Institute / Dana-Farber Cancer Institute / BCM laboratory / University of Utah / American College of Medical Genetics / Children’s Hospital / University of Washington / University of North Carolina / The Children’s Hospital of Philadelphia / EHRs N/A N/A N/A N/A Vidant Health/East Carolina University / National Human Genome Research Institute / Human Genome Research Institute / National Cancer Institute / Women’s Hospital / Chapel Hill / Baylor College of Medicine / College of Medicine / Northwest Institute / Broad Institute of MIT / /

IndustryTerm

semantic network / decision support technologies / inpatient site / built tools / Online Mendelian Inheritance / omic ancillary systems / standardized coding systems / informatics tools / study site / translational tools / biomedical informatics tools / laboratory information management systems / bioinformatics infrastructure / cross-site / laboratory medicine/pathology using custom systems / scientific program management / clinical management / carrier status / active decision support systems / external tool / bioinformatics tools / autosomal recessive carrier status / annotation software / advance online publication / exome variant server / /

MedicalCondition

microcephaly / mitochondrial disorders / clinical disease / sudden cardiac arrest / brain tumors / tumor / cardiomyopathy / cancer / colon adenocarcinoma / tumors / inherited disease / familial cancer / medically actionable childhood-onset disease / neuromuscular disorders / high-risk solid tumors / also analyzing tumor / colorectal cancer / colon cancer / colo-rectal cancer / MS / medically actionable adultonset disease / hereditary predisposition / disease / /

NaturalFeature

Chapel Hill / /

Organization

American College of Medical Genetics / University of Washington / National Human Genome Research Institute / World Health Organization / HUGO Gene Nomenclature Committee / 5Harvard Medical School / Northwest Institute for Genetic Medicine / Susan G. Komen / CYP2C9.28 St Jude Hospital / GeneInsight Lab / Children’s Hospital Philadelphia / East Carolina University / University of Utah / Baylor College of Medicine / Dana-Farber Cancer Institute Leadership Council / NGS / National Human Genome Research Institute CSER / Children’s Hospital of Philadelphia / 6The Broad Institute / Harvard Medical School / National Cancer Institute / Human Genome Variation Society / Washington State Life Sciences Discovery Fund / MIT / University of North Carolina / Harvard / Women’s Hospital / CSER Coordinating Center / Clinical Sequencing Exploratory Research / Dana-Farber Cancer Institute / 3Partners HealthCare Center for Personalized Genetic Medicine / 10Baylor College of Medicine / Center for Biomedical Informatics / 9Brigham and Women’s Hospital / CSER EMR WG / National Center for Biotechnology Information / BCM CLIA / 4Dana-Farber Cancer Institute / Agency for Healthcare Research and Quality / /

Person

Matthew Lebo / Gene Nomenclature / Gail Jarvik / Sorian / Yaping Yang / Peter S. White / Eliezer Van Allen / Robert W. Grundmeier / Sharon E. Plon / Laura Amendola / Stacy Gray / Mark Hoffman / Peter Tarczy-Hornoch / Dean Karavite / Lucia A. Hindorff / Gene Reviews / Samuel J. Aronson / Levi Garraway / Karen E. Weck / /

Position

physician / ordering physician / medical director / Governor / /

Product

HMS / Cartagenia / iPad / Alamut / GeneInsight / Illumina HiSeq platform / Illumina HiSeq / /

ProgrammingLanguage

XML / BASIC / /

ProvinceOrState

Washington / Utah / Texas / Maryland / Pennsylvania / North Carolina / Massachusetts / /

Technology

pharmacogenomic / XML / html / human genome / Genomics / bioinformatics / Biotechnology / PDF / knowledge management / http / GeneInsight technology / /

URL

http /

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