Incidental medical information in whole-exome sequencing. - Wikidata - wikimedia - TriplyDB

Incidental medical information in whole-exome sequencing.

Incidental medical information in whole-exome sequencing.

http://www.wikidata.org/entity/Q35996752

about

Ethical and legal implications of whole genome and whole exome sequencing in African populations.Whole-genome sequencing in health care. Recommendations of the European Society of Human Genetics.Whole-genome sequencing in health care: recommendations of the European Society of Human Genetics.Self-guided management of exome and whole-genome sequencing results: changing the results return model.Prenatal whole genome sequencing: just because we can, should we?Growing up in the genomic era: implications of whole-genome sequencing for children, families, and pediatric practice.Genomic sequencing for psychiatric disorders: promise and challenge Applying Genomic Analysis to Newborn Screening Applying deep DNA sequencing to common, complex pediatric traits.Intentions to receive individual results from whole-genome sequencing among participants in the ClinSeq study.Clinical genomic database.Managing incidental genomic findings: legal obligations of clinicians.Applications of high-throughput DNA sequencing to benign hematology Legal approaches regarding health-care decisions involving minors: implications for next-generation sequencing.Enhancing the incidental pipeline in genomic sequencing.A Systematic Review of the Management of Incidental Findings in Genomic Research.Update on pediatric cancer predisposition syndromes.Massively Parallel Sequencing for Genetic Diagnosis of Hearing Loss: The New Standard of Care Obstacles and opportunities for the future of genomic medicine.Incomplete knowledge of the clinical context as a barrier to interpreting incidental genetic research findings.Potential Role of Genomic Sequencing in the Early Diagnosis of Treatable Genetic Conditions.Views of primary care providers regarding the return of genome sequencing incidental findings.Genomic decision support needs in pediatric primary care.Associations of perceived norms with intentions to learn genomic sequencing results: Roles for attitudes and ambivalence.

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Incidental medical information in whole-exome sequencing.

http://www.wikidata.org/entity/Q35996752

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name

Incidental medical information in whole-exome sequencing.

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Incidental medical information in whole-exome sequencing.

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Incidental medical information in whole-exome sequencing.

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Incidental medical information in whole-exome sequencing.

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Incidental medical information in whole-exome sequencing.

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Alice C Young

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Aparna Kamat

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Benjamin D Solomon

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Benjamin E Berkman

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Daniel E Pineda-Alvarez

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Donald W Hadley

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P2860

Oxidative stress causes enhanced endothelial cell injury in human heme oxygenase-1 deficiency

Progressive juvenile-onset punctate cataracts caused by mutation of the gammaD-crystallin gene

Analysis of genetic inheritance in a family quartet by whole-genome sequencing

Mutations in DNAH5 cause primary ciliary dyskinesia and randomization of left-right asymmetry

Mutations responsible for 3-phosphoserine phosphatase deficiency

Relationship between carbamoyl-phosphate synthetase genotype and systemic vascular function

Mutations in NALP12 cause hereditary periodic fever syndromes

Mutations of the alpha2(V) chain of type V collagen impair matrix assembly and produce ehlers-danlos syndrome type I

Carbamyl phosphate synthetase I deficiency. One base substitution in an exon of the CPS I gene causes a 9-basepair deletion due to aberrant splicing

Mutation of human keratin 18 in association with cryptogenic cirrhosis

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e1605-11

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10.1542/PEDS.2011-0080

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NISC Comparative Sequencing Program

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