Evidence map›Paper›PMID 34038146›Full record

ReviewAnnual review of genomics and human genetics2021

The Role of Electronic Health Records in Advancing Genomic Medicine.

Jodell E Linder, Lisa Bastarache, Jacob J Hughey, Josh F Peterson

Open access · hybridAbstract readReview
In one paragraph

Review in Annual review of genomics and human genetics, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 12 papers.

0numbers the graph read from it
0cells of the map it votes in
12citing papers in PubMed
3.5field-weighted citation impact, top 7% of its field
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

12 citing papers in PubMed, 31 citations in OpenAlex.

  1. Article
  2. Review
  3. Article
  4. GWAS for Periodontitis Phenotypes Using Multi-Ancestry All of Us Research Platform.medRxiv : the preprint server for health sciences · 2025
    Article
  5. Article
  6. Article
  7. US public health surveillance, reimagined.Learning health systems · 2024
    Article
  8. Article
  9. Review
  10. Review
  11. Article
  12. Article
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

4 authors at 1 institution in 1 country.

Jodell E LinderVanderbilt Institute for Clinical and Translational Research, Vanderbilt University Medical Center, Nashville, Tennessee 37203, USA; email: jodell.jackson@vumc.org.
Lisa BastaracheDepartment of Biomedical Informatics, Vanderbilt University Medical Center, Nashville, Tennessee 37203, USA; email: lisa.bastarache@vumc.org, jake.hughey@vumc.org, josh.peterson@vumc.org.
Jacob J HugheyDepartment of Biomedical Informatics, Vanderbilt University Medical Center, Nashville, Tennessee 37203, USA; email: lisa.bastarache@vumc.org, jake.hughey@vumc.org, josh.peterson@vumc.org.
Josh F PetersonDepartment of Biomedical Informatics, Vanderbilt University Medical Center, Nashville, Tennessee 37203, USA; email: lisa.bastarache@vumc.org, jake.hughey@vumc.org, josh.peterson@vumc.org.
Vanderbilt University Medical Center · US

Funding

Vanderbilt Institute for Clinical and Translational Research (VICTR) -Identifying correlates of functional immunity in SARS-CoV-2 convalescent plasmaUL1TR002243 · NCATS · VANDERBILT UNIVERSITY MEDICAL CENTER · PI Paul A. Harris, Wesley H Self · 2017 to 2026
$130.7M
The eMERGE Risk Assessment Network - Coordinating CenterU01HG011166 · NHGRI · VANDERBILT UNIVERSITY MEDICAL CENTER · PI Niall John Lennon, Joseph F. Peterson · 2020 to 2026
$16.8M
Integrated, Individualized, and Intelligent Prescribing (I3P) Clinical Trial NetworkU01HG010232 · NHGRI · VANDERBILT UNIVERSITY MEDICAL CENTER · PI CAVANAUGH, KERRI, PETERSON, JOSEPH F. · 2018 to 2024
$8.2M
From GWAS to PheWAS: Scanning the EMR Phenome for Gene-disease AssociationsR01LM010685 · NLM · VANDERBILT UNIVERSITY MEDICAL CENTER · PI BASTARACHE, LISA · 2011 to 2022
$6.3M
NCATS NIH HHS UL1 TR002243NHGRI NIH HHS U01 HG010232NHGRI NIH HHS U01 HG011166NLM NIH HHS R01 LM010685
6 · The paper itself

Abstract

Recent advances in genomic technology and widespread adoption of electronic health records (EHRs) have accelerated the development of genomic medicine, bringing promising research findings from genome science into clinical practice. Genomic and phenomic data, accrued across large populations through biobanks linked to EHRs, have enabled the study of genetic variation at a phenome-wide scale. Through new quantitative techniques, pleiotropy can be explored with phenome-wide association studies, the occurrence of common complex diseases can be predicted using the cumulative influence of many genetic variants (polygenic risk scores), and undiagnosed Mendelian syndromes can be identified using EHR-based phenotypic signatures (phenotype risk scores). In this review, we trace the role of EHRs from the development of genome-wide analytic techniques to translational efforts to test these new interventions to the clinic. Throughout, we describe the challenges that remain when combining EHRs with genetics to improve clinical care.

Indexed as

Electronic Health RecordsGenome-Wide Association StudyGenomicsHumansPhenotypeRisk Factorselectronic health recordsGWASphenomePheRSPheWAStranslational genomics

Identifiers

PMID34038146
PMCPMC9297710
OpenAlexW3164931878

What OpenQuestion holds

Textmetadata
LicenceCC BY
Read underepoch 390

Registered trials

None linked

Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.