about
The Human Phenotype Ontology: Semantic Unification of Common and Rare DiseaseImpact of New Genomic Technologies on Understanding Adverse Drug ReactionsGenetic studies of quantitative MCI and AD phenotypes in ADNI: Progress, opportunities, and plansClinical application of next-generation sequencing for Mendelian diseasesPerspectives on pharmacogenomics of antiretroviral medications and HIV-associated comorbiditiesThe diagnostic approach to monogenic very early onset inflammatory bowel disease"Is It Worth Knowing?" Focus Group Participants' Perceived Utility of Genomic Preconception Carrier Screening.The possibility of clinical sequencing in the management of cancerGenetics of Tinnitus: An Emerging Area for Molecular Diagnosis and Drug DevelopmentThe genetics of premature ovarian failure: current perspectivesInsights from exome sequencing for endocrine disordersDeveloping genomic knowledge bases and databases to support clinical management: current perspectivesAn eMERGE Clinical Center at Partners Personalized MedicineVariants of uncertain significance in BRCA: a harbinger of ethical and policy issues to come?A systematic approach to the reporting of medically relevant findings from whole genome sequencing.Reducing INDEL calling errors in whole genome and exome sequencing data.Precision medicine in the age of big data: The present and future role of large-scale unbiased sequencing in drug discovery and development.Replicate exome-sequencing in a multiple-generation family: improved interpretation of next-generation sequencing data.mirVAFC: A Web Server for Prioritizations of Pathogenic Sequence Variants from Exome Sequencing Data via Classifications.Characterization of a New DGKE Intronic Mutation in Genetically Unsolved Cases of Familial Atypical Hemolytic Uremic SyndromeHigh-Throughput Genetic Testing for Thrombotic Microangiopathies and C3 Glomerulopathies.DNA Sequence Analysis in Clinical Medicine, Proceeding Cautiously.Insights from early experience of a Rare Disease Genomic Medicine Multidisciplinary Team: a qualitative study.Novel mutations in ADSL for Adenylosuccinate Lyase Deficiency identified by the combination of Trio-WES and constantly updated guidelinesClinical Applicability of Whole-Exome Sequencing Exemplified by a Study in Young Adults with the Advanced Cryptogenic Cholestatic Liver Diseases.Clinical sequencing using a next-generation sequencing-based multiplex gene assay in patients with advanced solid tumors.A taxonomy of medical uncertainties in clinical genome sequencingClinical Sequencing Exploratory Research Consortium: Accelerating Evidence-Based Practice of Genomic Medicine.Newborn Sequencing in Genomic Medicine and Public Health.Phenotip - a web-based instrument to help diagnosing fetal syndromes antenatally.An approach to pediatric exome and genome sequencing.Living laboratory: whole-genome sequencing as a learning healthcare enterprise.'Someday it will be the norm': physician perspectives on the utility of genome sequencing for patient care in the MedSeq ProjectThe fiduciary relationship model for managing clinical genomic "incidental" findings.A one-page summary report of genome sequencing for the healthy adultGenomic sequencing and the impact of molecular diagnosis on patient care.Oncotator: cancer variant annotation tool.Use of Whole Genome Sequencing for Diagnosis and Discovery in the Cancer Genetics Clinic.Parents are interested in newborn genomic testing during the early postpartum periodCharacterizing Participants in the ClinSeq Genome Sequencing Cohort as Early Adopters of a New Health Technology.
P2860
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P2860
description
2014 nî lūn-bûn
@nan
2014年の論文
@ja
2014年学术文章
@wuu
2014年学术文章
@zh-cn
2014年学术文章
@zh-hans
2014年学术文章
@zh-my
2014年学术文章
@zh-sg
2014年學術文章
@yue
2014年學術文章
@zh
2014年學術文章
@zh-hant
name
Diagnostic clinical genome and exome sequencing.
@en
type
label
Diagnostic clinical genome and exome sequencing.
@en
prefLabel
Diagnostic clinical genome and exome sequencing.
@en
P356
P1476
Diagnostic clinical genome and exome sequencing.
@en
P304
P356
10.1056/NEJMRA1312543
P407
P577
2014-06-01T00:00:00Z