Evidence map›Paper›PMID 31779674›Full record

ReviewGenome medicine2019

Standard operating procedure for curation and clinical interpretation of variants in cancer.

Arpad M Danos, Kilannin Krysiak, Erica K Barnell, Adam C Coffman, Joshua F McMichael, Susanna Kiwala, Nicholas C Spies, Lana M Sheta, Shahil P Pema, Lynzey Kujan and 13 more

Abstract readReview
In one paragraph

Review in Genome medicine, 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
–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

16 citing papers in PubMed.

  1. Searching the druggable genome using large language models.Bioinformatics (Oxford, England) · 2026
    Article
  2. Article
  3. Article
  4. Article
  5. Article
  6. Precision clinical medicine · 2024
    Article
  7. Article
  8. Article
  9. Article
  10. Article
  11. Article
  12. Accessing clinical-grade genomic classification data through the ClinGen Data Platform.Pacific Symposium on Biocomputing. Pacific Symposium on Biocomputing · 2023
    Article
  13. Establishing the Medical Actionability of Genomic Variants.Annual review of genomics and human genetics · 2022
    Review
  14. Article
  15. Article
  16. 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

23 authors.

Arpad M DanosMcDonnell Genome Institute, Washington University School of Medicine, St. Louis, MO, USA.
Kilannin KrysiakMcDonnell Genome Institute, Washington University School of Medicine, St. Louis, MO, USA.
Erica K BarnellMcDonnell Genome Institute, Washington University School of Medicine, St. Louis, MO, USA.ORCID 0000-0003-1631-1201
Adam C CoffmanMcDonnell Genome Institute, Washington University School of Medicine, St. Louis, MO, USA.
Joshua F McMichaelMcDonnell Genome Institute, Washington University School of Medicine, St. Louis, MO, USA.
Susanna KiwalaMcDonnell Genome Institute, Washington University School of Medicine, St. Louis, MO, USA.
Nicholas C SpiesMcDonnell Genome Institute, Washington University School of Medicine, St. Louis, MO, USA.
Lana M ShetaMcDonnell Genome Institute, Washington University School of Medicine, St. Louis, MO, USA.
Shahil P PemaMcDonnell Genome Institute, Washington University School of Medicine, St. Louis, MO, USA.
Lynzey KujanMcDonnell Genome Institute, Washington University School of Medicine, St. Louis, MO, USA.
Kaitlin A ClarkMcDonnell Genome Institute, Washington University School of Medicine, St. Louis, MO, USA.
Amber Z WollamMcDonnell Genome Institute, Washington University School of Medicine, St. Louis, MO, USA.
Shruti RaoInnovation Center for Biomedical Informatics, Georgetown University, Washington DC, USA.
Deborah I RitterDepartment of Pediatrics, Texas Children's Hospital, Baylor College of Medicine, Houston, TX, USA.
Dmitriy SonkinBiometric Research Program, Division of Cancer Treatment and Diagnosis, National Cancer Institute, Rockville, MD, USA.
Gordana RacaKeck School of Medicine, University of Southern California, Los Angeles, California, USA.
Wan-Hsin LinDepartment of Cancer Biology, Mayo Clinic, Jacksonville, Florida, USA.
Cameron J GrisdaleCanada's Michael Smith Genome Sciences Centre, British Columbia Cancer Agency, Vancouver, BC, Canada.
Raymond H KimFred A. Litwin Family Center in Genetic Medicine, University Health Network, Toronto, ON, Canada.
Alex H WagnerMcDonnell Genome Institute, Washington University School of Medicine, St. Louis, MO, USA.
Subha MadhavanInnovation Center for Biomedical Informatics, Georgetown University, Washington DC, USA.
Malachi GriffithMcDonnell Genome Institute, Washington University School of Medicine, St. Louis, MO, USA. mgriffit@wustl.edu.
Obi L GriffithMcDonnell Genome Institute, Washington University School of Medicine, St. Louis, MO, USA. obigriffith@wustl.edu.

Funding

WU INSTITUTE OF CLINICAL AND TRANSLATIONAL SCIENCESUL1TR002345 · NCATS · WASHINGTON UNIVERSITY · PI William G. Powderly · 2017 to 2026
$97.8M
The Future of PharmGKB Funding Under NHGRIU41HG009649 · NHGRI · STANFORD UNIVERSITY · PI MONTINE, THOMAS J, PLON, SHARON E. · 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
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
Genomic and Functional Identification of Chemotherapy Resistance Mechanisms in Small Cell Lung CancerU01CA231844 · NCI · WASHINGTON UNIVERSITY · PI GOVINDAN, RAMASWAMY, GRIFFITH, OBI L. · 2018 to 2022
$3.1M
DEVELOPMENT OF INFORMATICS RESOURCES FOR INTERPRETATION OF CLINICALLY ACTIONABLE VARIANTS IN CANCERU01CA209936 · NCI · WASHINGTON UNIVERSITY · PI GRIFFITH, OBI L. · 2016 to 2018
$1.0M
Integrated Analysis & Interpretation of Whole Genome Exome & Transcriptome SequenR00HG007940 · NHGRI · WASHINGTON UNIVERSITY · PI GRIFFITH, MALACHI · 2017 to 2019
$724k
DEFINING THE REGULATORY, NON-CODING, MUTATIONAL LANDSCAPE OF BREAST CANCERK22CA188163 · NCI · WASHINGTON UNIVERSITY · PI GRIFFITH, OBI L. · 2014 to 2016
$515k
INTEGRATED ANALYSIS & INTERPRETATION OF WHOLE GENOME, EXOME & TRANSCRIPTOME SEQUENCE DATA IN CANCERK99HG007940 · NHGRI · WASHINGTON UNIVERSITY · PI GRIFFITH, MALACHI · 2015 to 2016
$264k
A Collaborative Reporting Tool For Interpreting Genomic Events In Lung CancersF32CA206247 · NCI · WASHINGTON UNIVERSITY · PI WAGNER, ALEX HANDLER · 2017 to 2018
$122k
NCATS NIH HHS UL1 TR002345NCATS NIH HHS UL1TR002345NCI NIH HHS F32 CA206247NCI NIH HHS F32CA206247NCI NIH HHS K22 CA188163NCI NIH HHS K22CA188163NCI NIH HHS U01 CA209936NCI NIH HHS U01CA209936NCI NIH HHS U01 CA231844NCI NIH HHS U24 CA237719NCI NIH HHS U24CA237719NHGRI NIH HHS K99 HG007940NHGRI NIH HHS R00 HG007940NHGRI NIH HHS U41 HG009649NHGRI NIH HHS U41 HG009650
6 · The paper itself

Abstract

Manually curated variant knowledgebases and their associated knowledge models are serving an increasingly important role in distributing and interpreting variants in cancer. These knowledgebases vary in their level of public accessibility, and the complexity of the models used to capture clinical knowledge. CIViC (Clinical Interpretation of Variants in Cancer - www.civicdb.org) is a fully open, free-to-use cancer variant interpretation knowledgebase that incorporates highly detailed curation of evidence obtained from peer-reviewed publications and meeting abstracts, and currently holds over 6300 Evidence Items for over 2300 variants derived from over 400 genes. CIViC has seen increased adoption by, and also undertaken collaboration with, a wide range of users and organizations involved in research. To enhance CIViC's clinical value, regular submission to the ClinVar database and pursuit of other regulatory approvals is necessary. For this reason, a formal peer reviewed curation guideline and discussion of the underlying principles of curation is needed. We present here the CIViC knowledge model, standard operating procedures (SOP) for variant curation, and detailed examples to support community-driven curation of cancer variants.

Indexed as

Clinical CompetenceDisease SusceptibilityKnowledge BasesPractice Patterns, Physicians'Disease ManagementHumansModels, TheoreticalNeoplasmsCancerCurationKnowledgebaseStandard operating procedureVariant

Identifiers

PMID31779674
PMCPMC6883603

What OpenQuestion holds

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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.