Pages that link to "Q37377663"

The following pages link to A standardized, evidence-based protocol to assess clinical actionability of genetic disorders associated with genomic variation. (Q37377663):

Displaying 37 items.

• The UCSC Genome Browser database: 2017 update (Q28584444) (← links)
• Bedside Back to Bench: Building Bridges between Basic and Clinical Genomic Research (Q33906483) (← links)
• 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 (Q34544874) (← links)
• Clinical penetrance in hereditary hemochromatosis: estimates of the cumulative incidence of severe liver disease among HFE C282Y homozygotes (Q38644627) (← links)
• Quantifying survival in patients with Proteus syndrome. (Q38702638) (← links)
• Implementing genomics and pharmacogenomics in the clinic: The National Human Genome Research Institute's genomic medicine portfolio (Q38822784) (← links)
• Variability in assigning pathogenicity to incidental findings: insights from LDLR sequence linked to the electronic health record in 1013 individuals (Q38987441) (← links)
• A primer to clinical genome sequencing (Q41639348) (← links)
• Matchmaking facilitates the diagnosis of an autosomal-recessive mitochondrial disease caused by biallelic mutation of the tRNA isopentenyltransferase (TRIT1) gene (Q41920819) (← links)
• Genomic medicine for kidney disease (Q47200436) (← links)
• When bins blur: Patient perspectives on categories of results from clinical whole genome sequencing. (Q47294616) (← links)
• The Impact of Whole-Genome Sequencing on the Primary Care and Outcomes of Healthy Adult Patients: A Pilot Randomized Trial (Q47717402) (← links)
• Anticipated responses of early adopter genetic specialists and nongenetic specialists to unsolicited genomic secondary findings (Q49498072) (← links)
• From public health genomics to precision public health: a 20-year journey (Q49841808) (← links)
• Patient Decisions to Receive Secondary Pharmacogenomic Findings and Development of a Multidisciplinary Practice Model to Integrate Results Into Patient Care (Q49951884) (← links)
• MECP2 variation in Rett syndrome - an overview of current coverage of genetic and phenotype data within existing databases (Q52312226) (← links)
• Development of Clinical Domain Working Groups for the Clinical Genome Resource (ClinGen): lessons learned and plans for the future (Q56887893) (← links)
• Harmonizing Outcomes for Genomic Medicine: Comparison of eMERGE Outcomes to ClinGen Outcome/Intervention Pairs (Q57306569) (← links)
• Evidence-based assessments of clinical actionability in the context of secondary findings: Updates from ClinGen's Actionability Working Group (Q57455566) (← links)
• Identification of Misclassified ClinVar Variants via Disease Population Prevalence (Q57640462) (← links)
• ClinGen and ClinVar - Enabling Genomics in Precision Medicine (Q57721347) (← links)
• Analysis of 51 proposed hypertrophic cardiomyopathy genes from genome sequencing data in sarcomere negative cases has negligible diagnostic yield (Q64042140) (← links)
• Implementation of genomics in medical practice to deliver precision medicine for an Asian population. (Q64911490) (← links)
• Secondary actionable findings identified by exome sequencing: expected impact on the organisation of care from the study of 700 consecutive tests (Q90284171) (← links)
• Precision medicine - networks to the rescue (Q90560528) (← links)
• Health outcomes, utility and costs of returning incidental results from genomic sequencing in a Canadian cancer population: protocol for a mixed-methods randomised controlled trial (Q90597648) (← links)
• Expert and lay perspectives on burden, risk, tolerability, and acceptability of clinical interventions for genetic disorders (Q91557711) (← links)
• Germline-focussed analysis of tumour-only sequencing: recommendations from the ESMO Precision Medicine Working Group (Q91729402) (← links)
• Dissecting in silico Mutation Prediction of Variants in African Genomes: Challenges and Perspectives (Q91782864) (← links)
• Reconceptualizing harms and benefits in the genomic age (Q91804391) (← links)
• Genomic test ends a long diagnostic odyssey in a patient with resistance to thyroid hormones (Q92155962) (← links)
• Considerations for clinical curation, classification, and reporting of low-penetrance and low effect size variants associated with disease risk (Q92419715) (← links)
• Opportunities, resources, and techniques for implementing genomics in clinical care (Q92506513) (← links)
• Future of Evidence Synthesis in Precision Oncology: Between Systematic Reviews and Biocuration (Q92863838) (← links)
• Evidence for penetrance in patients without a family history of disease: a systematic review (Q92643783) (← links)
• A rapid solubility assay of protein domain misfolding for pathogenicity assessment of rare DNA sequence variants (Q96019130) (← links)
• Frequency of genomic secondary findings among 21,915 eMERGE network participants (Q96432059) (← links)