Gail P. Jarvik
A5059340927- Genetic Associations and Epidemiology
- Genomics and Rare Diseases
- BRCA gene mutations in cancer
- Cancer Genomics and Diagnostics
- Ethics in Clinical Research
- Genetic factors in colorectal cancer
- Paraoxonase enzyme and polymorphisms
- Lipoproteins and Cardiovascular Health
- Genomic variations and chromosomal abnormalities
- Nutrition, Genetics, and Disease
- Bioinformatics and Genomic Networks
- Diabetes, Cardiovascular Risks, and Lipoproteins
- Congenital Heart Disease Studies
- Alzheimer's disease research and treatments
- Metabolomics and Mass Spectrometry Studies
- Genetic and phenotypic traits in livestock
- Genetic Mapping and Diversity in Plants and Animals
- Biomedical Text Mining and Ontologies
- Health Systems, Economic Evaluations, Quality of Life
- Lipid metabolism and disorders
- Epigenetics and DNA Methylation
- Cynara cardunculus studies
- Prenatal Screening and Diagnostics
- RNA modifications and cancer
- Colorectal Cancer Screening and Detection
University of Washington Medical Center
2016-2025
Brotman Baty Institute
2023-2025
University of Washington
2015-2024
Seattle University
2011-2024
The Mount
2005-2024
Sinai Hospital
2024
Seattle Children's Hospital
2021-2023
Alzheimer’s Disease Neuroimaging Initiative
2023
Baylor College of Medicine
2023
Children's Hospital of Philadelphia
2008-2022
Previous studies suggest that erythrocyte membranes from intraplaque hemorrhage into the necrotic core are a source of free cholesterol and may become driving force in progression atherosclerosis. We have shown MRI can accurately identify carotid precisely measure plaque volume. tested hypothesis atheroma stimulates progression.Twenty-nine subjects (14 cases with 15 controls comparably sized plaques without at baseline) underwent serial examination multicontrast weighted protocol (T1, T2,...
In January 2009, the National Heart, Lung, and Blood Institute convened a 28-member multidisciplinary Working Group to update recommendations of 2004 focused on Guidelines Return Genetic Research Results. Changes in genetic societal landscape over intervening 5 years raise multiple questions challenges. The group noted complex issues arising from fact that technological bioinformatic progress has made it possible obtain considerable information individuals would not have been decade ago....
Recommendations for laboratories to report incidental findings from genomic tests have stimulated interest in such results. In order investigate the criteria and processes assigning pathogenicity of specific variants estimate frequency patients European African ancestry, we classified potentially actionable pathogenic single-nucleotide (SNVs) all 4300 European- 2203 African-ancestry participants sequenced by NHLBI Exome Sequencing Project (ESP). We considered 112 gene-disease pairs selected...
The legacy of human-Neandertal interbreeding Non-African humans are estimated to have inherited on average 1.5 4% their genomes from Neandertals. However, how this genetic affects human traits is unknown. Simonti et al. combined genotyping data with electronic health records. Individual Neandertal alleles were correlated clinically relevant phenotypes in individuals European descent. These archaic variants associated medical conditions affecting the skin, blood, and risk depression. Science...
Genome-wide association studies (GWAS) are being conducted at an unprecedented rate in population-based cohorts and have increased our understanding of the pathophysiology complex disease. Regardless context, practical utility this information will ultimately depend upon quality original data. Quality control (QC) procedures for GWAS computationally intensive, operationally challenging, constantly evolving. Here we enumerate some challenges QC data describe approaches that electronic MEdical...
Genome-wide association studies (GWAS) require high specificity and large numbers of subjects to identify genotype-phenotype correlations accurately. The aim this study was type 2 diabetes (T2D) cases controls for a GWAS, using data captured through routine clinical care across five institutions different electronic medical record (EMR) systems.An algorithm developed T2D based on combination diagnoses, medications, laboratory results. performance the validated at three participating compared...
Abstract Comprehensively mapping the genetic basis of human disease across diverse individuals is a long-standing goal for field genetics 1–4 . The All Us Research Program longitudinal cohort study aiming to enrol group at least one million USA accelerate biomedical research and improve health 5,6 Here we describe programme’s genomics data release 245,388 clinical-grade genome sequences. This resource unique in its diversity as 77% participants are from communities that historically...
We describe here the design and initial implementation of eMERGE-PGx project. eMERGE-PGx, a partnership Electronic Medical Records Genomics Network Pharmacogenomics Research Network, has three objectives: (i) to deploy PGRNseq, next-generation sequencing platform assessing sequence variation in 84 proposed pharmacogenes, nearly 9,000 patients likely be prescribed drugs interest 1- 3-year time frame across several clinical sites; (ii) integrate well-established clinically validated...
Alzheimer's disease (AD) is a complex genetic disorder with no effective treatments. More than 20 common markers have been identified, which are associated AD. Recently, several rare variants identified in Amyloid Precursor Protein (APP), Triggering Receptor Expressed On Myeloid Cells 2 (TREM2) and Unc-5 Netrin C (UNC5C) that affect risk for Despite the many successes, architecture of AD remains unsolved. We used Genome-wide Complex Trait Analysis to (1) estimate phenotypic variance...
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