Evidence map›Paper›PMID 38564685›Full record

ArticleJCO precision oncology2024

Solving Missing Heritability in Patients With Familial Adenomatous Polyposis With DNA-RNA Paired Testing.

Colin C Young, Carolyn Horton, Jessica Grzybowski, Nelly Abualkheir, Jesus Ramirez Castano, Bhuvan Molparia, Rachid Karam, Elizabeth Chao, Marcy E Richardson

Erratum issuedOpen access · hybridAbstract read
In one paragraph

Article in JCO precision oncology, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. Cited by 6 papers.

0numbers the graph read from it
0cells of the map it votes in
6citing papers in PubMed
2.1field-weighted citation impact, top 14% 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

6 citing papers in PubMed, 5 citations in OpenAlex.

  1. Article
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  4. Review
  5. Review
  6. Review
4 · The record

Corrections and comments

5 · Who and what money

Authors and funding

9 authors at 1 institution in 1 country.

Colin C YoungAmbry Genetics, Aliso Viejo, CA.ORCID 0000-0002-9385-8262
Carolyn HortonAmbry Genetics, Aliso Viejo, CA.ORCID 0000-0001-5186-6208
Jessica GrzybowskiAmbry Genetics, Aliso Viejo, CA.ORCID 0000-0002-3422-6441
Nelly AbualkheirAmbry Genetics, Aliso Viejo, CA.
Jesus Ramirez CastanoAmbry Genetics, Aliso Viejo, CA.
Bhuvan MolpariaAmbry Genetics, Aliso Viejo, CA.
Rachid KaramAmbry Genetics, Aliso Viejo, CA.ORCID 0000-0002-5645-498X
Elizabeth ChaoAmbry Genetics, Aliso Viejo, CA.ORCID 0000-0002-4082-371X
Marcy E RichardsonAmbry Genetics, Aliso Viejo, CA.ORCID 0000-0002-4626-4920
Ambry Genetics (United States) · US

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

purposePatients with germline pathogenic variants (PVs) in

methodsWe performed a retrospective query of individuals tested with paired DNA-RNA MGPT from 2021 to 2022 at a single laboratory and included those with a novel

resultsThree novel

conclusionHere, we describe how paired DNA-RNA MGPT can be used to solve missing heritability in FAP families, which can have important implications in family planning and treatment decisions for patients and their families.

Indexed as

Adenomatous Polyposis ColiColorectal NeoplasmsDNAGenetic TestingHumansRetrospective StudiesDNA

Identifiers

PMID38564685
PMCPMC11000780
OpenAlexW4393596038

What OpenQuestion holds

Textmetadata
LicenceCC BY-NC-ND
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.