Evidence map›Paper›PMID 36541006›Full record

ArticlePacific Symposium on Biocomputing. Pacific Symposium on Biocomputing2023

Accessing clinical-grade genomic classification data through the ClinGen Data Platform.

Karen P Dalton, Heidi L Rehm, Matt W Wright, Mark E Mandell, Kilannin Krysiak, Lawrence Babb, Kevin Riehle, Tristan Nelson, Alex H Wagner

Abstract read
In one paragraph

Article in Pacific Symposium on Biocomputing. Pacific Symposium on Biocomputing, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.

0numbers the graph read from it
0cells of the map it votes in
3citing 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

3 citing papers in PubMed.

  1. Article
  2. Article
  3. Mapping MAVE data for use in human genomics applications.bioRxiv : the preprint server for biology · 2024
    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

9 authors.

Karen P DaltonDepartment of Biomedical Data Science, Stanford University, Stanford, CA, USA.
Heidi L Rehm
Matt W Wright
Mark E Mandell
Kilannin Krysiak
Lawrence Babb
Kevin Riehle
Tristan Nelson
Alex H Wagner

Funding

Baylor College of Medicine/Stanford University Clinical Genome Resource (CLINGEN)U24HG009649 · NHGRI · BAYLOR COLLEGE OF MEDICINE · PI TERI Ellen KLEIN, Aleksandar Milosavljevic · 2021 to 2026
$31.5M
The Clinical Genome Resource – Advancing genomic medicine through biocuration and expert assessment of genes and variants at scaleU24HG009650 · NHGRI · UNIV OF NORTH CAROLINA CHAPEL HILL · PI JONATHAN S BERG, Jessica Ezzell Hunter · 2021 to 2026
$30.0M
ClinGen AI Data Delivery SupplementU24HG006834 · NHGRI · BROAD INSTITUTE, INC. · PI Marina DiStefano, CHRISTA LESE MARTIN · 2021 to 2026
$26.7M
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 and validation of a computable knowledge framework for genomic medicineR35HG011949 · NHGRI · RESEARCH INST NATIONWIDE CHILDREN'S HOSP · PI WAGNER, ALEX HANDLER · 2021 to 2025
$2.4M
NCI NIH HHS U24 CA237719NHGRI NIH HHS R35 HG011949NHGRI NIH HHS U24 HG006834NHGRI NIH HHS U24 HG009649NHGRI NIH HHS U24 HG009650
6 · The paper itself

Abstract

The Clinical Genome Resource (ClinGen) serves as an authoritative resource on the clinical relevance of genes and variants. In order to support our curation activities and to disseminate our findings to the community, we have developed a Data Platform of informatics resources backed by standardized data models. In this workshop we demonstrate our publicly available resources including curation interfaces, (Variant Curation Interface, CIViC), supporting infrastructure (Allele Registry, Genegraph), and data models (SEPIO, GA4GH VRS, VA).

Indexed as

Computational BiologyGenetic VariationDatabases, GeneticGenome, HumanGenomicsHumans

Identifiers

PMID36541006
PMCPMC10114895

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.