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AHRQ Research Studies
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Research Studies is a compilation of published research articles funded by AHRQ or authored by AHRQ researchers.
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1 to 3 of 3 Research Studies DisplayedPolubriaginof FCG, Vanguri R, Quinnies K
Disease heritability inferred from familial relationships reported in medical records.
Electronic health records (EHRs) passively capture a wide range of clinically relevant data and provide a resource for studying the heritability of traits that are not typically accessible. This study used EHR data to compute heritability estimates for 500 disease phenotypes. These analyses provided a validation of the use of EHRs for genetics and disease research.
AHRQ-funded; HS021816; HS022961.
Citation: Polubriaginof FCG, Vanguri R, Quinnies K .
Disease heritability inferred from familial relationships reported in medical records.
Cell 2018 Jun 14;173(7):1692-704.e11. doi: 10.1016/j.cell.2018.04.032..
Keywords: Data, Family Health and History, Genetics, Health Information Technology (HIT), Electronic Health Records (EHRs)
Gallego CJ, Burt A, Sundaresan AS
Penetrance of hemochromatosis in HFE genotypes resulting in p.Cys282Tyr and p.[Cys282Tyr];[His63Asp] in the eMERGE Network.
The researchers used the eMERGE Network, a multicenter cohort with genotype data linked to electronic medical records, to estimate the diagnostic rate and clinical penetrance of hereditary hemochromatosis ( HH in 98 individuals homozygous for the variant coding for HFE p.Cys282Tyr and 397 compound heterozygotes with variants resulting in p.[His63Asp];[Cys282Tyr].
AHRQ-funded; HS021686.
Citation: Gallego CJ, Burt A, Sundaresan AS .
Penetrance of hemochromatosis in HFE genotypes resulting in p.Cys282Tyr and p.[Cys282Tyr];[His63Asp] in the eMERGE Network.
Am J Hum Genet 2015 Oct 1;97(4):512-20. doi: 10.1016/j.ajhg.2015.08.008..
Keywords: Electronic Health Records (EHRs), Genetics, Health Information Technology (HIT)
Welch BM, Eilbeck K, Del Fiol G
Technical desiderata for the integration of genomic data with clinical decision support.
The objective of this study is to develop and validate a guiding set of technical desiderata for supporting the clinical use of the whole genome sequence (WGS) through clinical decision support (CDS). A panel of domain experts in genomics and CDS developed a proposed set of seven additional requirements. These additional desiderata provide important guiding principles for the technical development of CDS capabilities for the clinical use of WGS information.
AHRQ-funded; HS018352.
Citation: Welch BM, Eilbeck K, Del Fiol G .
Technical desiderata for the integration of genomic data with clinical decision support.
J Biomed Inform 2014 Oct;51:3-7. doi: 10.1016/j.jbi.2014.05.014..
Keywords: Clinical Decision Support (CDS), Health Information Technology (HIT), Genetics, Electronic Health Records (EHRs), Shared Decision Making