From Genomics & Health Impact Scan Database
This database includes published scientific literature on evidence-based translation of genomic discoveries into improved health care and disease prevention that have a potential impact on population health.
Publication
Stargazer: a software tool for calling star alleles from next-generation sequencing data using CYP2D6 as a model.
Lee Seung-Been et al. Genetics in medicine : official journal of the American College of Medical Genetics 2018 Jun
Lee Seung-Been et al. Genetics in medicine : official journal of the American College of Medical Genetics 2018 Jun
Training Institute for Dissemination and Implementation Research in Health
NIH, OBSSR, 2018A fast and cost-effective method for apolipoprotein E isotyping as an alternative to APOE genotyping for patient screening and stratification.
Calero Olga et al. Scientific reports 2018 Apr 8(1) 5969
NIH, OBSSR, 2018A fast and cost-effective method for apolipoprotein E isotyping as an alternative to APOE genotyping for patient screening and stratification.
Calero Olga et al. Scientific reports 2018 Apr 8(1) 5969
A 6-week laboratory research rotation in pharmacogenomics: a model for preparing pharmacy students to practice precision medicine.
Rao Prema S et al. The pharmacogenomics journal 2018 Mar
Rao Prema S et al. The pharmacogenomics journal 2018 Mar
Moving knowledge into action for more effective practice, programmes and policy: protocol for a research programme on integrated knowledge translation.
Graham Ian D, et al. Implementation science : IS 2018 2 0. (1) 22
Graham Ian D, et al. Implementation science : IS 2018 2 0. (1) 22
ChronQC: A Quality Control Monitoring System for Clinical Next Generation Sequencing.
Tawari Nilesh R et al. Bioinformatics (Oxford, England) 2017 Dec
Tawari Nilesh R et al. Bioinformatics (Oxford, England) 2017 Dec
PharmCAT: A Pharmacogenomics Clinical Annotation Tool.
Klein Teri E et al. Clinical pharmacology and therapeutics 2017 Dec
Klein Teri E et al. Clinical pharmacology and therapeutics 2017 Dec
Simplifying the Use of Pharmacogenomics in Clinical Practice: Building the Genomic Prescribing System.
Danahey Keith et al. Journal of biomedical informatics 2017 Sep
Danahey Keith et al. Journal of biomedical informatics 2017 Sep
Developing a common framework for evaluating the implementation of genomic medicine interventions in clinical care: the IGNITE Network's Common Measures Working Group.
Orlando Lori A et al. Genetics in medicine : official journal of the American College of Medical Genetics 2017 Sep
Orlando Lori A et al. Genetics in medicine : official journal of the American College of Medical Genetics 2017 Sep
A Knowledge-based System for Intelligent Support in Pharmacogenomics Evidence Assessment: Ontology-driven Evidence Representation and Retrieval.
Lee Chia-Ju et al. AMIA Joint Summits on Translational Science proceedings. AMIA Joint Summits on Translational Science 2017 2017175-184
Lee Chia-Ju et al. AMIA Joint Summits on Translational Science proceedings. AMIA Joint Summits on Translational Science 2017 2017175-184
Design Recommendations for Pharmacogenomics Clinical Decision Support Systems.
Khelifi Maher et al. AMIA Joint Summits on Translational Science proceedings. AMIA Joint Summits on Translational Science 2017 2017237-246
Khelifi Maher et al. AMIA Joint Summits on Translational Science proceedings. AMIA Joint Summits on Translational Science 2017 2017237-246
ApreciseKUre: an approach of Precision Medicine in a Rare Disease.
Spiga Ottavia et al. BMC medical informatics and decision making 2017 Apr 17(1) 42
Spiga Ottavia et al. BMC medical informatics and decision making 2017 Apr 17(1) 42
Design, Implementation, and Assessment Approaches Within a Pharmacogenomics Course.
Remsberg Connie M et al. American journal of pharmaceutical education 2017 Feb 81(1) 11
Remsberg Connie M et al. American journal of pharmaceutical education 2017 Feb 81(1) 11
ClinGen Pathogenicity Calculator: a configurable system for assessing pathogenicity of genetic variants.
Patel Ronak Y et al. Genome medicine 2017 Jan 9(1) 3
Patel Ronak Y et al. Genome medicine 2017 Jan 9(1) 3
Genomic Competencies for Nursing Practice: Implications for Nursing Leadership.
Boyd Andrea M et al. The Journal of nursing administration 2017 Jan 47(1) 62-67
Boyd Andrea M et al. The Journal of nursing administration 2017 Jan 47(1) 62-67
Somatic cancer variant curation and harmonization through consensus minimum variant level data.
Ritter Deborah I et al. Genome medicine 2016 Nov 8(1) 117
Ritter Deborah I et al. Genome medicine 2016 Nov 8(1) 117
'IRDiRC Recognized Resources': a new mechanism to support scientists to conduct efficient, high-quality research for rare diseases.
Lochmüller Hanns et al. European journal of human genetics : EJHG 2016 Oct
Lochmüller Hanns et al. European journal of human genetics : EJHG 2016 Oct
Assessing multilevel determinants of adoption and implementation of genomic medicine: an organizational mixed-methods approach.
Oishi Sabine M et al. Genetics in medicine : official journal of the American College of Medical Genetics 2015 Nov 17(11) 919-26
Oishi Sabine M et al. Genetics in medicine : official journal of the American College of Medical Genetics 2015 Nov 17(11) 919-26
The intersection of precision medicine and implementation science
1-hour webinar and slides, NCI Precision Medicine and Population Health, August 2016Development of a curriculum in molecular diagnostics, genomics and personalized medicine for dermatology trainees.
Murphy Michael J et al. Journal of cutaneous pathology 2016 Jun
1-hour webinar and slides, NCI Precision Medicine and Population Health, August 2016Development of a curriculum in molecular diagnostics, genomics and personalized medicine for dermatology trainees.
Murphy Michael J et al. Journal of cutaneous pathology 2016 Jun
Navigating highly homologous genes in a molecular diagnostic setting: a resource for clinical next-generation sequencing.
Mandelker Diana et al. Genetics in medicine : official journal of the American College of Medical Genetics 2016 May
Mandelker Diana et al. Genetics in medicine : official journal of the American College of Medical Genetics 2016 May
A New Framework and Prototype Solution for Clinical Decision Support and Research in Genomics and Other Data-intensive Fields of Medicine.
Evans James P et al. EGEMS (Washington, DC) 2016 4(1) 1198
Evans James P et al. EGEMS (Washington, DC) 2016 4(1) 1198
Community engagement to inform the development of a sickle cell counselor training and certification program in Ghana.
Anie Kofi A et al. Journal of community genetics 2016 Apr
Anie Kofi A et al. Journal of community genetics 2016 Apr
Toward Global Biobank Integration by Implementation of the Minimum Information About BIobank Data Sharing (MIABIS 2.0 Core).
Merino-Martinez Roxana et al. Biopreservation and biobanking 2016 Mar
Merino-Martinez Roxana et al. Biopreservation and biobanking 2016 Mar
Achieving behaviour change for detection of Lynch syndrome using the Theoretical Domains Framework Implementation (TDFI) approach: a study protocol.
Taylor Natalie et al. BMC health services research 2016 16(1) 89
Taylor Natalie et al. BMC health services research 2016 16(1) 89
Patients' ratings of genetic conditions validate a taxonomy to simplify decisions about preconception carrier screening via genome sequencing.
Leo Michael C et al. American journal of medical genetics. Part A 2016 Mar 170(3) 574-82
Leo Michael C et al. American journal of medical genetics. Part A 2016 Mar 170(3) 574-82
The Cancer Genome Atlas Clinical Explorer: a web and mobile interface for identifying clinical-genomic driver associations.
Lee HoJoon et al. Genome medicine 2015 7(1) 112
Lee HoJoon et al. Genome medicine 2015 7(1) 112
A cancer genetics toolkit improves access to genetic services through documentation and use of the family history by primary-care clinicians.
Scheuner Maren T et al. Genet. Med. 2014 Jan 16(1) 60-9
Scheuner Maren T et al. Genet. Med. 2014 Jan 16(1) 60-9
Genetic ME-a visualization application for merging and editing pedigrees for genetic studies.
Bui Diem K et al. BMC Res Notes 2015 Jun 16. 8(1) 241
Bui Diem K et al. BMC Res Notes 2015 Jun 16. 8(1) 241
GeneStoryTeller: a mobile app for quick and comprehensive information retrieval of human genes.
Eleftheriou Stergiani V et al. Database (Oxford) 2015 2015
Eleftheriou Stergiani V et al. Database (Oxford) 2015 2015
Global implementation of genomic medicine: We are not alone
Manolio TA, et al. Sci Transl Med 3 June 2015: Vol. 7, Issue 290, p. 290ps13WHATIF: An open-source desktop application for extraction and management of the incidental findings from next-generation sequencing variant data.
Ye Zhan et al. Comput. Biol. Med. 2015 Apr 8.
Manolio TA, et al. Sci Transl Med 3 June 2015: Vol. 7, Issue 290, p. 290ps13WHATIF: An open-source desktop application for extraction and management of the incidental findings from next-generation sequencing variant data.
Ye Zhan et al. Comput. Biol. Med. 2015 Apr 8.
GeneTIER: prioritization of candidate disease genes using tissue-specific gene expression profiles.
Antanaviciute Agne et al. Bioinformatics 2015 Apr 9.
Antanaviciute Agne et al. Bioinformatics 2015 Apr 9.
Validation of an online questionnaire for identifying people at risk of familial and hereditary colorectal cancer.
Kallenberg F G J et al. Fam. Cancer 2015 Mar 24.
Kallenberg F G J et al. Fam. Cancer 2015 Mar 24.
Comparative effectiveness of next generation genomic sequencing for disease diagnosis: design of a randomized controlled trial in patients with colorectal cancer/polyposis syndromes.
Self-guided management of exome and whole-genome sequencing results: changing the results return model.
Implementation of the CDC translational informatics platform--from genetic variants to the national Swedish Rheumatology Quality Register.
From newborn screening to population health research: implementation of the Michigan BioTrust for health.
The TREAT-NMD Duchenne muscular dystrophy registries: conception, design, and utilization by industry and academia.
Developing an international network for Alzheimer research: The Dominantly Inherited Alzheimer Network.
A comprehensive laboratory-based program for classification of variants of uncertain significance in hereditary cancer genes.
Developments in FINDbase worldwide database for clinically relevant genomic variation allele frequencies.
The Coriell personalized medicine collaborative pharmacogenomics appraisal, evidence scoring and interpretation system.
Privacy protection and public goods: building a genetic database for health research in Newfoundland and Labrador.
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