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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.

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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 Similar articles in PubMed
Training Institute for Dissemination and Implementation Research in Health  NIH, OBSSR, 2018
A 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 Similar articles in PubMed
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 Similar articles in PubMed
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 Similar articles in PubMed
ChronQC: A Quality Control Monitoring System for Clinical Next Generation Sequencing. Tawari Nilesh R et al. Bioinformatics (Oxford, England) 2017 Dec Similar articles in PubMed
PharmCAT: A Pharmacogenomics Clinical Annotation Tool. Klein Teri E et al. Clinical pharmacology and therapeutics 2017 Dec Similar articles in PubMed
Simplifying the Use of Pharmacogenomics in Clinical Practice: Building the Genomic Prescribing System. Danahey Keith et al. Journal of biomedical informatics 2017 Sep Similar articles in PubMed
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 Similar articles in PubMed
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 Similar articles in PubMed
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 Similar articles in PubMed
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 Similar articles in PubMed
Design, Implementation, and Assessment Approaches Within a Pharmacogenomics Course. Remsberg Connie M et al. American journal of pharmaceutical education 2017 Feb 81(1) 11 Similar articles in PubMed
ClinGen Pathogenicity Calculator: a configurable system for assessing pathogenicity of genetic variants. Patel Ronak Y et al. Genome medicine 2017 Jan 9(1) 3 Similar articles in PubMed
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 Similar articles in PubMed
Somatic cancer variant curation and harmonization through consensus minimum variant level data. Ritter Deborah I et al. Genome medicine 2016 Nov 8(1) 117 Similar articles in PubMed
'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 Similar articles in PubMed
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 Similar articles in PubMed
The intersection of precision medicine and implementation science 1-hour webinar and slides, NCI Precision Medicine and Population Health, August 2016
Development of a curriculum in molecular diagnostics, genomics and personalized medicine for dermatology trainees. Murphy Michael J et al. Journal of cutaneous pathology 2016 Jun Similar articles in PubMed
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 Similar articles in PubMed
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 Similar articles in PubMed
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 Similar articles in PubMed
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 Similar articles in PubMed
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 Similar articles in PubMed
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 Similar articles in PubMed
TOGGLE: toolbox for generic NGS analyses. Monat Cécile et al. BMC bioinformatics 2015 16374 Similar articles in PubMed
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 Similar articles in PubMed
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 Similar articles in PubMed
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 Similar articles in PubMed
GeneStoryTeller: a mobile app for quick and comprehensive information retrieval of human genes. Eleftheriou Stergiani V et al. Database (Oxford) 2015 2015 Similar articles in PubMed
Global implementation of genomic medicine: We are not alone Manolio TA, et al. Sci Transl Med 3 June 2015: Vol. 7, Issue 290, p. 290ps13
WHATIF: 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. Similar articles in PubMed
GeneTIER: prioritization of candidate disease genes using tissue-specific gene expression profiles. Antanaviciute Agne et al. Bioinformatics 2015 Apr 9. Similar articles in PubMed
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. Similar articles in PubMed
Comparative effectiveness of next generation genomic sequencing for disease diagnosis: design of a randomized controlled trial in patients with colorectal cancer/polyposis syndromes. Similar articles in PubMed
Genomic standards consortium projects. Similar articles in PubMed
Clinical genomics in the world of the electronic health record. Similar articles in PubMed
Genetic databases in pharmacogenomics: the Frequency of Inherited Disorders Database (FINDbase). Similar articles in PubMed
Providing access to risk prediction tools via the HL7 XML-formatted risk web service. Similar articles in PubMed
The Electronic Medical Records and Genomics (eMERGE) Network: past, present, and future. Similar articles in PubMed
Self-guided management of exome and whole-genome sequencing results: changing the results return model. Similar articles in PubMed
Implementation of the CDC translational informatics platform--from genetic variants to the national Swedish Rheumatology Quality Register. Similar articles in PubMed
Electronic health record design and implementation for pharmacogenomics: a local perspective. Similar articles in PubMed
From newborn screening to population health research: implementation of the Michigan BioTrust for health. Similar articles in PubMed
Genetic testing information standardization in HL7 CDA and ISO13606. Similar articles in PubMed
The TREAT-NMD Duchenne muscular dystrophy registries: conception, design, and utilization by industry and academia. Similar articles in PubMed
Developing an international network for Alzheimer research: The Dominantly Inherited Alzheimer Network. Similar articles in PubMed
Development of a scalable pharmacogenomic clinical decision support service. Similar articles in PubMed
A comprehensive laboratory-based program for classification of variants of uncertain significance in hereditary cancer genes. Similar articles in PubMed
Developments in FINDbase worldwide database for clinically relevant genomic variation allele frequencies. Similar articles in PubMed
The Coriell personalized medicine collaborative pharmacogenomics appraisal, evidence scoring and interpretation system. Similar articles in PubMed
Pharmacogenomics knowledge for personalized medicine. Similar articles in PubMed
Privacy protection and public goods: building a genetic database for health research in Newfoundland and Labrador. Similar articles in PubMed
Public-private partnership as a solution for integrating genetic services into health care of countries with low and middle incomes. Similar articles in PubMed