Genomics & Health Impact Scan Database|Search|PHGKB

Genomics & Health Impact Scan Database|Search|PHGKB

Publication
Enabling precision medicine in neonatology, an integrated repository for preterm birth research. Sirota Marina et al. Scientific data 2018 Nov 5180219 Similar articles in PubMed
A Comprehensive Human Gastric Cancer Organoid Biobank Captures Tumor Subtype Heterogeneity and Enables Therapeutic Screening. Yan Helen H N et al. Cell stem cell 2018 Oct Similar articles in PubMed
A Platform for Comprehensive Genomic Profiling in Human Cancers and Pharmacogenomics Therapy Selection. Kou Tadayuki et al. Methods in molecular biology (Clifton, N.J.) 2018 1825413-424 Similar articles in PubMed
A new integrated and interactive tool applicable to inborn errors of metabolism: Application to alkaptonuria. Spiga Ottavia et al. Computers in biology and medicine 2018 Oct 1031-7 Similar articles in PubMed
An optimized prediction framework to assess the functional impact of pharmacogenetic variants. Zhou Yitian et al. The pharmacogenomics journal 2018 Sep Similar articles in PubMed
A framework to rank genomic alterations as targets for cancer precision medicine: the ESMO Scale for Clinical Actionability of molecular Targets (ESCAT). Mateo J et al. Annals of oncology : official journal of the European Society for Medical Oncology 2018 Aug Similar articles in PubMed
Precision Medicine: Genomic Testing for the Healthy Individual  Online Course for Healthcare Providers, Jackson Lab, June 2018
Using Genetic Risk Scores in the Prevention & Control of Common Diseases: Opportunities & Challenges  1-hour youtube video, NCI Precision Medicine and Population Health Webinar, May 31, 2018
Tailoring the American College of Medical Genetics and Genomics and the Association for Molecular Pathology Guidelines for the Interpretation of Sequenced Variants in the FBN1 Gene for Marfan Syndrome: Proposal for a Disease- and Gene-Specific Guideline. Muiño-Mosquera Laura, et al. Circulation. Genomic and precision medicine 2018 6 0. (6) e002039 Similar articles in PubMed
VAReporter: variant reporter for cancer research of massive parallel sequencing. Huang Po-Jung et al. BMC genomics 2018 May 19(Suppl 2) 86 Similar articles in PubMed
SNPnexus: assessing the functional relevance of genetic variation to facilitate the promise of precision medicine. Dayem Ullah Abu Z et al. Nucleic acids research 2018 May Similar articles in PubMed
The role of cost-effectiveness analysis in precision medicine and public health genomics.  S Grosse, CDC slide presentation, Mar 2018
Will precision medicine improve population health? Yes, if….  M Khoury, Slide Presentation, University of Utah, Mar 2018
Accurate Filtering of Privacy-Sensitive Information in Raw Genomic Data. Decouchant Jérémie et al. Journal of biomedical informatics 2018 Apr 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
Precision medicine for your practice: CME and CNE modules for clinical applications of genetic testing Jackson Lab, 2018
The ESMO Precision Medicine Glossary. Jørgensen Jan Trøst et al. Annals of oncology : official journal of the European Society for Medical Oncology 2017 Nov Similar articles in PubMed
The European Society for Medical Oncology (ESMO) Precision Medicine Glossary. Yates L R et al. Annals of oncology : official journal of the European Society for Medical Oncology 2017 Nov Similar articles in PubMed
eRAM: encyclopedia of rare disease annotations for precision medicine. Jia Jinmeng et al. Nucleic acids research 2017 Nov Similar articles in PubMed
Precision Medicine and Health Disparities The Promise and Perils of Emerging Technologies  View 1 hour CDC-NIH Webinar, October 2017
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
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
Insights from the 2016 Precision Public Health Summit [PDF 292 KB] Kirsten Bibbins-Domingo, NCI precision medicine and population health webinar slide presentation, October 2016
Establishing universal screening for Lynch syndrome in the community [PDF 9.03 MB] Heather Hampel, NCI precision medicine & population health webinar slide presentation, December 14, 2016
Precision Medicine Initiative: Implications for Public Health [PDF 1.01 MB] Bill Riley, NCI precision medicine & population health webinar, slide presentation, October 2016
DisGeNET: a comprehensive platform integrating information on human disease-associated genes and variants. Piñero Janet et al. Nucleic acids research 2016 Oct Similar articles in PubMed
The Precision Medicine Knowledge Base Weil Cornell, October 2016
The cancer precision medicine knowledge base for structured clinical-grade mutations and interpretations. Huang Linda et al. Journal of the American Medical Informatics Association : JAMIA 2016 Oct Similar articles in PubMed
My46: a Web-based tool for self-guided management of genomic test results in research and clinical settings. Tabor Holly K et al. Genetics in medicine : official journal of the American College of Medical Genetics 2016 Sep Similar articles in PubMed
Precision Medicine For Your Practice: Prenatal Cell-free DNA Screening AMA, CME course, AUgust 2016
The intersection of precision medicine and implementation science 1-hour webinar and slides, NCI Precision Medicine and Population Health, August 2016
FDA drug labeling: rich resources to facilitate precision medicine, drug safety, and regulatory science. Fang Hong et al. Drug discovery today 2016 Jun Similar articles in PubMed
A standardized, evidence-based protocol to assess clinical actionability of genetic disorders associated with genomic variation. Hunter Jessica Ezzell et al. Genetics in medicine : official journal of the American College of Medical Genetics 2016 Apr Similar articles in PubMed
OncDRS: An integrative clinical and genomic data platform for enabling translational research and precision medicine. Orechia John et al. Applied & translational genomics 2015 Sep 618-25 Similar articles in PubMed
The Geisinger MyCode community health initiative: an electronic health record-linked biobank for precision medicine research. Carey David J et al. Genetics in medicine : official journal of the American College of Medical Genetics 2016 Feb Similar articles in PubMed
DGIdb 2.0: mining clinically relevant drug-gene interactions. Wagner Alex H et al. Nucleic acids research 2015 Nov Similar articles in PubMed
A conceptual model for translating omic data into clinical action. Herr Timothy M et al. Journal of pathology informatics 2015 646 Similar articles in PubMed
GeneMed: An Informatics Hub for the Coordination of Next-Generation Sequencing Studies that Support Precision Oncology Clinical Trials. Zhao Yingdong et al. Cancer Inform 2015 14(Suppl 2) 45-55 Similar articles in PubMed