Evidence map›Paper›PMID 31338326›Full record

ArticleFrontiers in oncology2019

Exome-Wide Rare Variant Analysis From the DiscovEHR Study Identifies Novel Candidate Predisposition Genes for Endometrial Cancer.

Manu Shivakumar, Jason E Miller, Venkata Ramesh Dasari, Radhika Gogoi, Dokyoon Kim

Open access · goldAbstract read
In one paragraph

Article in Frontiers in oncology, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 16 papers.

0numbers the graph read from it
0cells of the map it votes in
16citing papers in PubMed
1.2field-weighted citation impact, top 21% 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

16 citing papers in PubMed, 19 citations in OpenAlex.

  1. Review
  2. Review
  3. Review
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  7. Review
  8. Article
  9. Genetic Analysis of Functional Rare Germline Variants across Nine Cancer Types from an Electronic Health Record Linked Biobank.Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology · 2021
    Article
  10. IncreasedJournal of gastrointestinal oncology · 2021
    Article
  11. Article
  12. Review
  13. Review
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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

5 authors at 2 institutions in 1 country.

Manu ShivakumarBiomedical and Translational Informatics Institute, Geisinger, Danville, PA, United States.
Jason E MillerBiomedical and Translational Informatics Institute, Geisinger, Danville, PA, United States.
Venkata Ramesh DasariWeis Center for Research, Geisinger Clinic, Danville, PA, United States.
Radhika GogoiWeis Center for Research, Geisinger Clinic, Danville, PA, United States.
Dokyoon KimBiomedical and Translational Informatics Institute, Geisinger, Danville, PA, United States.
Geisinger Neuroscience Institute · USGeisinger Medical Center · US

Funding

Postdoctoral Training Program in Genomic MedicineT32HG009495 · NHGRI · UNIVERSITY OF PENNSYLVANIA · PI Katherine L. Nathanson, Bogdan Pasaniuc · 2017 to 2026
$4.2M
NHGRI NIH HHS T32 HG009495
6 · The paper itself

Abstract

Endometrial cancer is the fourth most commonly diagnosed cancer in women. Family history is a known risk factor for endometrial cancer. The incidence of endometrial cancer in a first-degree relative elevates the relative risk to range between 1.3 and 2.8. It is unclear to what extent or what other novel germline variants are at play in endometrial cancer. We aim to address this question by utilizing whole exome sequencing as a means to identify novel, rare variant associations between exonic regions and endometrial cancer. The MyCode community health initiative is an excellent resource for this study with germline whole exome data for 60,000 patients available in the first phase, and further 30,000 patients independently sequenced in the second phase as part of DiscovEHR study. We conducted exome-wide rare variant association using 472 cases and 4,110 controls in 60,000 patients (discovery cohort); and 261 cases and 1,531 controls from 30,000 patients (replication cohort). After binning rare germline variants into genes, case-control association tests performed using Optimal Unified Approach for Rare-Variant Association, SKAT-O. Seven genes, including

Indexed as

cancer predisposition geneDiscovEHR cohortEHREHR-linked Biobankendometrial cancerrare variant

Identifiers

PMID31338326
PMCPMC6626914
OpenAlexW2951895285

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.