A standardized, evidence-based protocol to assess clinical actionability of genetic disorders associated with genomic variation.

A standardized, evidence-based protocol to assess clinical actionability of genetic disorders associated with genomic variation.

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http://www.wikidata.org/entity/Q37377663
The UCSC Genome Browser database: 2017 updateBedside Back to Bench: Building Bridges between Basic and Clinical Genomic Research.Clinical penetrance in hereditary hemochromatosis: estimates of the cumulative incidence of severe liver disease among HFE C282Y homozygotes.Quantifying survival in patients with Proteus syndrome.Implementing genomics and pharmacogenomics in the clinic: The National Human Genome Research Institute's genomic medicine portfolio.Variability in assigning pathogenicity to incidental findings: insights from LDLR sequence linked to the electronic health record in 1013 individuals.A primer to clinical genome sequencingMatchmaking facilitates the diagnosis of an autosomal-recessive mitochondrial disease caused by biallelic mutation of the tRNA isopentenyltransferase (TRIT1) gene.Genomic medicine for kidney disease.When bins blur: Patient perspectives on categories of results from clinical whole genome sequencing.The Impact of Whole-Genome Sequencing on the Primary Care and Outcomes of Healthy Adult Patients: A Pilot Randomized Trial.Anticipated responses of early adopter genetic specialists and nongenetic specialists to unsolicited genomic secondary findings.From public health genomics to precision public health: a 20-year journey.Patient Decisions to Receive Secondary Pharmacogenomic Findings and Development of a Multidisciplinary Practice Model to Integrate Results Into Patient Care.MECP2 variation in Rett syndrome - an overview of current coverage of genetic and phenotype data within existing databasesHarmonizing Outcomes for Genomic Medicine: Comparison of eMERGE Outcomes to ClinGen Outcome/Intervention PairsIdentification of Misclassified ClinVar Variants via Disease Population Prevalence
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A standardized, evidence-based protocol to assess clinical actionability of genetic disorders associated with genomic variation.

Item
http://www.wikidata.org/entity/Q37377663
description
article científic
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article scientifique
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articolo scientifico
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artigo científico
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bilimsel makale
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scientific article published on 28 April 2016
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vedecký článok
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vetenskaplig artikel
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videnskabelig artikel
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vědecký článek
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name
A standardized, evidence-based ...... ciated with genomic variation.
@en
A standardized, evidence-based ...... ciated with genomic variation.
@nl
type
label
A standardized, evidence-based ...... ciated with genomic variation.
@en
A standardized, evidence-based ...... ciated with genomic variation.
@nl
prefLabel
A standardized, evidence-based ...... ciated with genomic variation.
@en
A standardized, evidence-based ...... ciated with genomic variation.
@nl
P1433
P1476
P2093
P2860
P2888
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P356
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P433
P478
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P1476
A standardized, evidence-based ...... ociated with genomic variation
@en
P2093
P2860
P2888
P304
P31
P356
P407
P433
P478
P50
P577
P698
P932