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The Current Landscape of Genetic Testing in Cardiovascular Malformations: Opportunities and ChallengesAnimal-Free Chemical Safety AssessmentPersonal Genome Sequencing in Ostensibly Healthy Individuals and the PeopleSeq ConsortiumPharmacogenomics in the clinicThe Human Phenotype Ontology in 2017Integrating cancer genomic data into electronic health recordsGene discovery for Mendelian conditions via social networking: de novo variants in KDM1A cause developmental delay and distinctive facial featuresThe Monarch Initiative: an integrative data and analytic platform connecting phenotypes to genotypes across speciesReconciling evidence-based medicine and precision medicine in the era of big data: challenges and opportunitiesChallenges of Identifying Clinically Actionable Genetic Variants for Precision MedicineFacilitating a culture of responsible and effective sharing of cancer genome dataPerformance of ACMG-AMP Variant-Interpretation Guidelines among Nine Laboratories in the Clinical Sequencing Exploratory Research ConsortiumConsent Codes: Upholding Standard Data Use ConditionsAcquisition, Analysis, and Sharing of Data in 2015 and Beyond: A Survey of the Landscape: A Conference Report From the American Heart Association Data Summit 2015GenomeConnect: matchmaking between patients, clinical laboratories, and researchers to improve genomic knowledgeCIViC is a community knowledgebase for expert crowdsourcing the clinical interpretation of variants in cancerBig Data Analytics for Genomic MedicineEvolving health care through personal genomics.Evaluation: A Qualitative Pilot Study of Novel Information Technology Infrastructure to Communicate Genetic Variant Updates.Precision medicine in the age of big data: The present and future role of large-scale unbiased sequencing in drug discovery and development.Using large sequencing data sets to refine intragenic disease regions and prioritize clinical variant interpretation.Somatic cancer variant curation and harmonization through consensus minimum variant level dataLaboratory and clinical genomic data sharing is crucial to improving genetic health care: a position statement of the American College of Medical Genetics and Genomics.When "N of 2" is not enough: integrating statistical and functional data in gene discovery.Defining Disease, Diagnosis, and Translational Medicine within a Homeostatic Perturbation Paradigm: The National Institutes of Health Undiagnosed Diseases Program Experience.Genome sequencing and carrier testing: decisions on categorization and whether to disclose results of carrier testing.Health and population effects of rare gene knockouts in adult humans with related parentsClinical Sequencing Exploratory Research Consortium: Accelerating Evidence-Based Practice of Genomic Medicine.Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics.Newborn Sequencing in Genomic Medicine and Public Health.So rare we need to hunt for them: reframing the ethical debate on incidental findings.The diagnostic application of RNA sequencing in patients with thyroid cancer: an analysis of 851 variants and 133 fusions in 524 genesEffective quality management practices in routine clinical next-generation sequencing.Professionally Responsible Disclosure of Genomic Sequencing Results in Pediatric Practice.DATA SHARING AND REPRODUCIBLE CLINICAL GENETIC TESTING: SUCCESSES AND CHALLENGES.The dbGaP data browser: a new tool for browsing dbGaP controlled-access genomic data.Pathogenic Mutations in Cancer-Predisposing Genes: A Survey of 300 Patients with Whole-Genome Sequencing and Lifetime Electronic Health Records.Moving beyond Bermuda: sharing data to build a medical information commons.The UCSC Genome Browser database: 2016 update.Providing Access to Genomic Variant Knowledge in a Healthcare Setting: A Vision for the ClinGen Electronic Health Records Workgroup.
P2860
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P2860
description
2015 nî lūn-bûn
@nan
2015 թուականի Յունիսին հրատարակուած գիտական յօդուած
@hyw
2015 թվականի հունիսին հրատարակված գիտական հոդված
@hy
2015年の論文
@ja
2015年論文
@yue
2015年論文
@zh-hant
2015年論文
@zh-hk
2015年論文
@zh-mo
2015年論文
@zh-tw
2015年论文
@wuu
name
ClinGen--the Clinical Genome Resource
@ast
ClinGen--the Clinical Genome Resource
@en
ClinGen--the Clinical Genome Resource
@nl
type
label
ClinGen--the Clinical Genome Resource
@ast
ClinGen--the Clinical Genome Resource
@en
ClinGen--the Clinical Genome Resource
@nl
prefLabel
ClinGen--the Clinical Genome Resource
@ast
ClinGen--the Clinical Genome Resource
@en
ClinGen--the Clinical Genome Resource
@nl
P2093
P2860
P50
P3181
P356
P1476
ClinGen--the Clinical Genome Resource
@en
P2093
David H Ledbetter
Donna R Maglott
Erin M Ramos
James P Evans
Lisa D Brooks
Melissa J Landrum
Michael S Watson
Robert L Nussbaum
Sharon E Plon
Stephen T Sherry
P2860
P304
P3181
P356
10.1056/NEJMSR1406261
P407
P577
2015-06-04T00:00:00Z