Evidence map›Paper›PMID 32073412›Full record

ReviewCurrent opinion in lipidology2020

Using the electronic health record for genomics research.

Maya S Safarova, Iftikhar J Kullo

Abstract readReview
In one paragraph

Review in Current opinion in lipidology, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 6 papers.

0numbers the graph read from it
0cells of the map it votes in
6citing papers in PubMed
–field-weighted citation impact
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

6 citing papers in PubMed.

  1. Article
  2. Article
  3. Article
  4. Article
  5. Review
  6. 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

2 authors.

Maya S SafarovaAtherosclerosis and Lipid Genomics Laboratory and Department of Cardiovascular Medicine, Mayo Clinic, Rochester, Minnesota, USA.
Iftikhar J Kullo

Funding

Genomic Basis of Susceptibility to COVID-19 Infection and its ComplicationsU01HG006379 · NHGRI · MAYO CLINIC ROCHESTER · PI Richard R. Sharp · 2011 to 2026
$16.5M
EHR-Based Strategies to Improve Outcomes in Familial HypercholesterolemiaR01HL135879 · NHLBI · MAYO CLINIC ROCHESTER · PI KULLO, IFTIKHAR J · 2017 to 2020
$2.5M
Patient-Oriented Research in Genomic Discovery and ImplementationK24HL137010 · NHLBI · MAYO CLINIC ROCHESTER · PI KULLO, IFTIKHAR J · 2017 to 2021
$590k
NHGRI NIH HHS U01 HG006379NHLBI NIH HHS K24 HL137010NHLBI NIH HHS R01 HL135879
6 · The paper itself

Abstract

purpose of reviewAlthough primarily designed for medical documentation and billing purposes, the electronic health record (EHR) has significant potential for translational research. In this article, we provide an overview of the use of the EHR for genomics research with a focus on heritable lipid disorders. RECENT

findingsLinking the EHR to genomic data enables repurposing of vast phenotype data for genomic discovery. EHR data can be used to study the genetic basis of common and rare disorders, identify subphenotypes of diseases, assess pathogenicity of novel genomic variants, investigate pleiotropy, and rapidly assemble cohorts for genomic medicine clinical trials. EHR-based discovery can inform clinical practice; examples include use of polygenic risk scores for assessing disease risk and use of phenotype data to interpret rare variants. Despite limitations such as missing data, variable use of standards and poor interoperablility between disparate systems, the EHR is a powerful resource for genomic research. SUMMARY: When linked to genomic data, the EHR can be leveraged for genomic discovery, which in turn can inform clinical care, exemplifying the virtuous cycle of a learning healthcare system.

Indexed as

Electronic Health RecordsGenomicsHumans

Identifiers

PMID32073412
PMCPMC9229554

What OpenQuestion holds

Textmetadata
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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.