Evidence map›Paper›PMID 31645350›Full record

ArticleCold Spring Harbor molecular case studies2019

A case for expert curation: an overview of cancer curation in the Clinical Genome Resource (ClinGen).

Deborah I Ritter, Shruti Rao, Shashikant Kulkarni, Subha Madhavan, Kenneth Offit, Sharon E Plon

Open access · diamondAbstract read
In one paragraph

Article in Cold Spring Harbor molecular case studies, 2019. 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
–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

12 citing papers in PubMed, 21 citations in OpenAlex.

  1. Multiplatform curation in the development of ACMG/AMP specifications for Von Hippel-Lindau (VHL) disease.Genetics in medicine : official journal of the American College of Medical Genetics · 2026
    Article
  2. Article
  3. Article
  4. Review
  5. Article
  6. Optimising clinical care throughJournal of medical genetics · 2023
    Article
  7. Developing a disease-specific annotation protocol for VHL gene curation using Hypothes.is.Database : the journal of biological databases and curation · 2023
    Article
  8. Review
  9. Article
  10. Article
  11. Article
  12. Review
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

6 authors at 5 institutions in 1 country.

Deborah I RitterBaylor College of Medicine, Houston, Texas 77030, USA.
Shruti RaoInnovation Center for Biomedical Informatics, Georgetown University, Washington, D.C. 20007, USA.
Shashikant KulkarniBaylor College of Medicine, Houston, Texas 77030, USA.
Subha MadhavanInnovation Center for Biomedical Informatics, Georgetown University, Washington, D.C. 20007, USA.
Kenneth OffitDepartment of Medicine, Memorial Sloan Kettering Cancer Center, New York, New York 10065, USA.
Sharon E PlonBaylor College of Medicine, Houston, Texas 77030, USA.
Georgetown University · USBaylor Genetics · USChildren's Cancer Center · USKettering University · USTexas Children's Hospital · US

Funding

X-RAY CRYSTALLOGRAPHYP30CA008748 · NCI · SLOAN-KETTERING INSTITUTE FOR CANCER RES · PI Nicholas D Socci · 1985 to 2026
$347.4M
Resource ProjectU41HG006834 · NHGRI · BRIGHAM AND WOMEN'S HOSPITAL · PI REHM, HEIDI L · 2013 to 2020
$26.9M
The Future of PharmGKB Funding Under NHGRIU41HG009649 · NHGRI · STANFORD UNIVERSITY · PI BUSTAMANTE, CARLOS DANIEL · 2017 to 2020
$13.4M
The Clinical Genome Resource - Expert Curation and EHR IntegrationU41HG009650 · NHGRI · UNIV OF NORTH CAROLINA CHAPEL HILL · PI BERG, JONATHAN S, GODDARD, KATRINA A. · 2017 to 2020
$13.3M
Clinically Relevant Genome Variation DatabaseU01HG007436 · NHGRI · STANFORD UNIVERSITY · PI BUSTAMANTE, CARLOS DANIEL, PLON, SHARON E. · 2013 to 2016
$10.5M
A Knowledge Base for Clinically Relevant Genes and VariantsU01HG007437 · NHGRI · UNIV OF NORTH CAROLINA CHAPEL HILL · PI BERG, JONATHAN S, EVANS, JAMES PHILIP · 2013 to 2016
$9.0M
Standardized and Genome-Wide Clinical Interpretation of Complex Genotypes for Cancer Precision MedicineU24CA237719 · NCI · WASHINGTON UNIVERSITY · PI GRIFFITH, OBI L. · 2019 to 2023
$3.8M
DEVELOPMENT OF INFORMATICS RESOURCES FOR INTERPRETATION OF CLINICALLY ACTIONABLE VARIANTS IN CANCERU01CA209936 · NCI · WASHINGTON UNIVERSITY · PI GRIFFITH, OBI L. · 2016 to 2018
$1.0M
NCI NIH HHS P30 CA008748NCI NIH HHS U01 CA209936NCI NIH HHS U24 CA237719NHGRI NIH HHS U01 HG007436NHGRI NIH HHS U01 HG007437NHGRI NIH HHS U41 HG006834NHGRI NIH HHS U41 HG009649NHGRI NIH HHS U41 HG009650
6 · The paper itself

Abstract

We describe the Clinical Genome Resource (ClinGen) cancer-related curation activities and the importance of curation to the evolving state of variant interpretation in a clinical context for both pediatric and adult cancer patients. We highlight specific examples from the

Indexed as

Antigens, CDCadherinsDatabases, GeneticData CurationGenetic VariationGenome, HumanGenomicsHumansInformation DisseminationNeoplasmsPTEN PhosphohydrolaseAntigens, CDCadherinsCDH1 protein, humanPTEN PhosphohydrolasePTEN protein, human

Identifiers

PMID31645350
PMCPMC6824250
OpenAlexW2982251986

What OpenQuestion holds

Textmetadata
LicenceCC BY-NC
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.