A5069176656- Genomics and Rare Diseases
- Biomedical Text Mining and Ontologies
- Pharmacogenetics and Drug Metabolism
- Cancer Genomics and Diagnostics
- Ethics in Clinical Research
- Semantic Web and Ontologies
- BRCA gene mutations in cancer
- Bioinformatics and Genomic Networks
- Pharmaceutical studies and practices
- Genetic Associations and Epidemiology
- Computational Drug Discovery Methods
- Scientific Computing and Data Management
- Electronic Health Records Systems
- Genetics, Bioinformatics, and Biomedical Research
- Lipoproteins and Cardiovascular Health
- Genomic variations and chromosomal abnormalities
- Health and Medical Research Impacts
- Drug Transport and Resistance Mechanisms
- Gene expression and cancer classification
- Statistical Methods in Clinical Trials
- DNA Repair Mechanisms
- Genomics and Phylogenetic Studies
- Nitrogen and Sulfur Effects on Brassica
- Epigenetics and DNA Methylation
- Glycosylation and Glycoproteins Research
Mayo Clinic in Florida
2015-2025
Mayo Clinic
2012-2024
WinnMed
2019-2024
Mayo Clinic in Arizona
2000-2022
Bentham Science Publishers (China)
2014
Bentham Science Publishers (United Arab Emirates)
2014
Immunovaccine (Canada)
2006
Washington University in St. Louis
1994-2005
University of California, San Francisco
2005
Research Network (United States)
2004
Reporting and sharing pharmacogenetic test results across clinical laboratories electronic health records is a crucial step toward the implementation of pharmacogenetics, but allele function phenotype terms are not standardized. Our goal was to develop that can be broadly applied characterize inferred phenotypes.
The Clinical Pharmacogenetics Implementation Consortium (CPIC) publishes genotype-based drug guidelines to help clinicians understand how available genetic test results could be used optimize therapy. CPIC has focused initially on well-known examples of pharmacogenomic associations that have been implemented in selected clinical settings, publishing nine date. Each guideline adheres a standardized format and includes standard system for grading levels evidence linking genotypes phenotypes...
The Global Alliance for Genomics and Health (GA4GH) aims to accelerate biomedical advances by enabling the responsible sharing of clinical genomic data through both harmonized aggregation federated approaches. decreasing cost sequencing (along with other genome-wide molecular assays) increasing evidence its utility will soon drive generation sequence from tens millions humans, levels diversity. In this perspective, we present GA4GH strategies addressing major challenges revolution. We...
Polygenic risk scores (PRSs) have improved in predictive performance, but several challenges remain to be addressed before PRSs can implemented the clinic, including reduced performance of diverse populations, and interpretation communication genetic results both providers patients. To address these challenges, National Human Genome Research Institute-funded Electronic Medical Records Genomics (eMERGE) Network has developed a framework pipeline for return PRS-based genome-informed assessment...
Active clinical decision support (CDS) delivered through an electronic health record (EHR) facilitates gene-based drug prescribing and other applications of genomics to patient care.We describe the development, implementation, evaluation active CDS for multiple pharmacogenetic test results reported preemptively.Clinical accompanied by interpretations are placed into patient's EHR, typically before a relevant is prescribed. Problem list entries created high-risk phenotypes provide unambiguous...
The pace of discovery potentially actionable pharmacogenetic variants has increased dramatically in recent years. However, the implementation this new knowledge for individualized patient care been slow. Pharmacogenomics Research Network (PGRN) Translational Pharmacogenetics Program seeks to identify barriers and develop real-world solutions evidence-based tests diverse health-care settings. Dissemination resulting toolbox "implementation best practices" will prove useful a broad audience....
The Clinical Pharmacogenetics Implementation Consortium (CPIC) Guidelines for HLA-B Genotype and Abacavir Dosing were originally published in April 2012. We reviewed recent literature concluded that none of the evidence would change therapeutic recommendations original guideline; therefore, publication remains clinically current. However, we have updated Supplementary Material online included additional resources applying CPIC guidelines to electronic health record. Up-to-date information...
Numerous pharmacogenetic clinical guidelines and recommendations have been published, but barriers hindered the implementation of pharmacogenetics. The Translational Pharmacogenetics Program (TPP) National Institutes Health (NIH) Pharmacogenomics Research Network was established in 2011 to catalog contribute development implementations at eight US healthcare systems, with goal disseminate real‐world solutions for implementation. TPP collected normalized metrics through June 2015, including...
Abstract To move beyond a select few genes/drugs, the successful adoption of pharmacogenomics into routine clinical care requires curated and machine-readable database pharmacogenomic knowledge suitable for use in an electronic health record (EHR) with decision support (CDS). Recognizing that EHR vendors do not yet provide standard set CDS functions pharmacogenetics, Clinical Pharmacogenetics Implementation Consortium (CPIC) Informatics Working Group is developing systematically...
Identifying variants associated with complex human traits in high-dimensional data is a central goal of genome-wide association studies. However, complicated etiologies such as gene-gene interactions are ignored by the univariate analysis usually applied these Random Forests (RF) popular data-mining technique that can accommodate large number predictor variables and allow for models interactions. RF produces measures variable importance be used to rank variables. Thus, single nucleotide...
Identifying genetic variants associated with complex disease in high-dimensional data is a challenging problem, and complicated etiologies such as gene-gene interactions are often ignored analyses. The data-mining method Random Forests (RF) can handle high-dimensions; however, data, RF not an effective filter for identifying risk factors the trait via models without strong marginal components. Here we propose extension called Weighted (wRF), which incorporates tree-level weights to emphasize...
Abstract Objective Clinicians’ ability to use and interpret genetic information depends upon how those data are displayed in electronic health records (EHRs). There is a critical need develop systems effectively display EHRs augment clinical decision support (CDS). Materials Methods The National Institutes of Health (NIH)-sponsored Clinical Sequencing Exploratory Research Electronic Medical Records & Genomics EHR Working Groups conducted multiphase, iterative process involving working...
Abstract The recent announcement of the Precision Medicine Initiative by President Obama has brought precision medicine (PM) to forefront for healthcare providers, researchers, regulators, innovators, and funders alike. As technologies continue evolve datasets grow in magnitude, a strong computational infrastructure will be essential realize PM’s vision improved derived from personal data. In addition, informatics research innovation affords tremendous opportunity drive science underlying...
Abstract The development and implementation of clinical decision support (CDS) that trains itself adapts its algorithms based on new data—here referred to as Adaptive CDS—present unique challenges considerations. Although CDS represents an expected progression from earlier work, the activities needed appropriately manage establishment evolution require new, coordinated initiatives oversight do not currently exist. In this AMIA position paper, authors describe current emerging safe use lay...
The clinical element model (CEM) is an information designed for representing in electronic health records (EHR) systems across organizations. current representation of CEMs does not support formal semantic definitions and therefore it possible to perform reasoning consistency checking on derived models. This paper introduces our efforts represent the CEM specification using Web Ontology Language (OWL). CEM-OWL connects content with Semantic environment, which provides authoring, reasoning,...
Effective exchange of information about genetic variants is currently hampered by the lack readily available globally unique variant identifiers that would enable aggregation from different sources. The ClinGen Allele Registry addresses this problem providing (1) "canonical" (CAids) on demand, either individually or in large batches; (2) access to variant-identifying a searchable Registry; (3) links allele-related records many commonly used databases; and (4) services for adding registered...
Genomic knowledge is being translated into clinical care. To fully realize the value, it critical to place credible information in hands of clinicians time support decision making. The electronic health record an essential component clinician workflow. Utilizing present use genomic medicine care improve outcomes represents a tremendous opportunity. However, there are numerous barriers that prevent effective for this purpose. working groups Electronic Medical Records and Genomics (eMERGE)...
Maximizing the personal, public, research, and clinical value of genomic information will require reliable exchange genetic variation data. We report here Variation Representation Specification (VRS, pronounced "verse"), an extensible framework for computable representation that complements contemporary human-readable flat file standards representation. VRS provides semantically precise representations leverages this design to enable federated identification biomolecular with globally...