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Academic Journal

Selection, optimization and validation of ten chronic disease polygenic risk scores for clinical implementation in diverse US populations.

Subjects: Chronic Disease* ; Genetic Risk Score* ; Population Health*

  • Source: Nature medicine [Nat Med] 2024 Feb; Vol. 30 (2), pp. 480-487. Date of Electronic Publication: 2024 Feb 19.Publisher: Nature Publishing Company Country of Publication: United States NLM ID: 9502015 Publication Model: Print-Electronic

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Academic Journal

Harmonizing variant classification for return of results in the All of Us Research Program.

Subjects: Genome, Human*/Genome, Human*/Genome, Human*/genetics ; Population Health*; Genetic Testing/Genetic Testing/Genetic Testing/methods

  • Source: Human mutation [Hum Mutat] 2022 Aug; Vol. 43 (8), pp. 1114-1121. Date of Electronic Publication: 2021 Dec 28.Publisher: Wiley-Liss Country of Publication: United States NLM ID: 9215429 Publication Model: Print-Electronic Cited Medium:

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2021 ASHG presidential address-Imagination and daring: Past, present, and future.

  • Authors : Jarvik GP; University of Washington Medical Center, Departments of Medicine (Medical Genetics) and Genome Sciences, Seattle, WA 98195, USA. Electronic address: .

Subjects: Genetics, Medical*; Humans ; Imagination

  • Source: American journal of human genetics [Am J Hum Genet] 2022 Mar 03; Vol. 109 (3), pp. 381-383.Publisher: Cell Press Country of Publication: United States NLM ID: 0370475 Publication Model: Print Cited Medium:

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Academic Journal

Variant Interpretation for Dilated Cardiomyopathy: Refinement of the American College of Medical Genetics and Genomics/ClinGen Guidelines for the DCM Precision Medicine Study.

Subjects: Genetic Variation* ; Genetics, Medical* ; Precision Medicine*

  • Source: Circulation. Genomic and precision medicine [Circ Genom Precis Med] 2020 Apr; Vol. 13 (2), pp. e002480. Date of Electronic Publication: 2020 Mar 11.Publisher: Lippincott Williams & Wilkins Country of Publication: United States NLM ID: 101714113 Publication Model:

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Academic Journal

Points to consider: is there evidence to support BRCA1/2 and other inherited breast cancer genetic testing for all breast cancer patients? A statement of the American College of Medical Genetics and Genomics (ACMG).

Subjects: Breast Neoplasms*/Breast Neoplasms*/Breast Neoplasms*/diagnosis ; Breast Neoplasms*/Breast Neoplasms*/Breast Neoplasms*/genetics ; Genetics, Medical*

  • Source: Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2020 Apr; Vol. 22 (4), pp. 681-685. Date of Electronic Publication: 2019 Dec 13.Publisher: Elsevier Country of Publication: United States NLM ID: 9815831 Publication Model: Print-Electronic Cited Medium:

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Academic Journal

Minority-centric meta-analyses of blood lipid levels identify novel loci in the Population Architecture using Genomics and Epidemiology (PAGE) study.

Subjects: Lipids/Lipids/Lipids/*blood ; Lipids/Lipids/Lipids/*genetics ; Racial Groups/Racial Groups/Racial Groups/*genetics

  • Source: PLoS genetics [PLoS Genet] 2020 Mar 30; Vol. 16 (3), pp. e1008684. Date of Electronic Publication: 2020 Mar 30 (Print Publication: 2020).Publisher: Public Library of Science Country of Publication: United States NLM ID: 101239074 Publication Model: eCollection

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Academic Journal

The Responsibility to Recontact Research Participants after Reinterpretation of Genetic and Genomic Research Results.

  • Authors : Bombard Y; Social Issues Committee, American Society of Human Genetics, Rockville, MD 20852, USA; Institute of Health Policy, Management, and Evaluation, University of Toronto, Toronto, ON M5T 3M6, Canada

Subjects: Duty to Recontact*; Duty to Warn/Duty to Warn/Duty to Warn/*legislation & jurisprudence ; Genetic Testing/Genetic Testing/Genetic Testing/*standards

  • Source: American journal of human genetics [Am J Hum Genet] 2019 Apr 04; Vol. 104 (4), pp. 578-595.Publisher: Cell Press Country of Publication: United States NLM ID: 0370475 Publication Model: Print Cited Medium:

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Academic Journal

Enrichment sampling for a multi-site patient survey using electronic health records and census data.

  • Authors : Mercaldo ND; Department of Radiology, Institute for Technology Assessment, Massachusetts General Hospital, Boston, Massachusetts, USA.; Brothers KB

Subjects: Censuses* ; Electronic Health Records* ; Patient Selection*

  • Source: Journal of the American Medical Informatics Association : JAMIA [J Am Med Inform Assoc] 2019 Mar 01; Vol. 26 (3), pp. 219-227.Publisher: Oxford University Press Country of Publication: England NLM ID: 9430800 Publication Model: Print Cited Medium: Internet ISSN:

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Academic Journal

The Clinical Sequencing Evidence-Generating Research Consortium: Integrating Genomic Sequencing in Diverse and Medically Underserved Populations.

Subjects: Genome, Human/Genome, Human/Genome, Human/*genetics; Adult ; Cost-Benefit Analysis/Cost-Benefit Analysis/Cost-Benefit Analysis/methods

  • Source: American journal of human genetics [Am J Hum Genet] 2018 Sep 06; Vol. 103 (3), pp. 319-327.Publisher: Cell Press Country of Publication: United States NLM ID: 0370475 Publication Model: Print Cited Medium:

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Academic Journal

Lessons Learned From A Study Of Genomics-Based Carrier Screening For Reproductive Decision Making.

  • Authors : Wilfond BS; Benjamin S. Wilfond ( ) is director of the Treuman Katz Center for Pediatric Bioethics, Seattle Children's Hospital and Research Institute, and of the Division of Bioethics and Palliative Care, Department of Pediatrics, University of Washington School of Medicine, all in Seattle, Washington.; Kauffman TL

Subjects: Genomics*; Clinical Decision-Making/Clinical Decision-Making/Clinical Decision-Making/*methods ; Delivery of Health Care/Delivery of Health Care/Delivery of Health Care/*organization & administration

  • Source: Health affairs (Project Hope) [Health Aff (Millwood)] 2018 May; Vol. 37 (5), pp. 809-816.Publisher: Project Hope Country of Publication: United States NLM ID: 8303128 Publication Model: Print Cited Medium:

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