Evidence map›Paper›PMID 39426251›Full record

ArticleMolecular genetics and metabolism2024

Assessment of genes involved in lysosomal diseases using the ClinGen clinical validity framework.

Emily Groopman, Shruthi Mohan, Amber Waddell, Matheus Wilke, Raquel Fernandez, Meredith Weaver, Hongjie Chen, Hongbin Liu, Deeksha Bali, Heather Baudet and 8 more

Abstract read
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In one paragraph

Article in Molecular genetics and metabolism, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

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

0 citing papers in PubMed.

No citing paper in PubMed yet.

4 · The record

Corrections and comments

5 · Who and what money

Authors and funding

18 authors.

Emily GroopmanChildren's National Hospital, Washington, DC, USA.
Shruthi MohanDepartment of Genetics, University of North Carolina at Chapel Hill, Chapel Hill, NC, USA.
Amber WaddellDepartment of Genetics, University of North Carolina at Chapel Hill, Chapel Hill, NC, USA.
Matheus WilkeMayo Clinic, Rochester, MN, USA.
Raquel FernandezAmerican College of Genetics and Genomics, Bethesda, MD, USA.
Meredith WeaverAmerican College of Genetics and Genomics, Bethesda, MD, USA.
Hongjie ChenPreventionGenetics/Exact Sciences, Marshfield, WI, USA.
Hongbin LiuRevvity, Pittsburgh, PA, USA.
Deeksha BaliDuke University Health System, Durham, NC, USA.
Heather BaudetDepartment of Genetics, University of North Carolina at Chapel Hill, Chapel Hill, NC, USA.
Lorne ClarkeUniversity of British Columbia, Vancouver, Canada.
Christina HungInvitae, San Francisco, CA, USA.
Rong MaoARUP, Salt Lake City, UT, USA; University of Utah, Salt Lake City, UT, USA.
Filippo Pinto E VairoMayo Clinic, Rochester, MN, USA.
Lemuel RacachoAlberta Precision Laboratories, Alberta, Canada.
Tatiana YuzyukARUP, Salt Lake City, UT, USA; University of Utah, Salt Lake City, UT, USA.
William J CraigenBaylor College of Medicine, Houston, TX, USA.
Jennifer GoldsteinDepartment of Genetics, University of North Carolina at Chapel Hill, Chapel Hill, NC, USA. Electronic address: jennifer.goldstein@unc.edu.

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
NHGRI NIH HHS U24 HG006834NHGRI NIH HHS U24 HG009649NHGRI NIH HHS U24 HG009650
6 · The paper itself

Abstract

Lysosomal diseases (LDs) are a heterogeneous group of rare genetic disorders that result in impaired lysosomal function, leading to progressive multiorgan system dysfunction. Accurate diagnosis is paramount to initiating targeted therapies early in the disease process in addition to providing prognostic information and appropriate support for families. In recent years, genomic sequencing technologies have become the first-line approach in the diagnosis of LDs. Understanding the clinical validity of the role of a gene in a disease is critical for the development of genomic technologies, such as which genes to include on next generation sequencing panels, and the interpretation of results from exome and genome sequencing. To this aim, the ClinGen Lysosomal Diseases Gene Curation Expert Panel utilized a semi-quantitative framework incorporating genetic and experimental evidence to assess the clinical validity of the 56 LD-associated genes on the Lysosomal Disease Network's list. Here, we describe the results, and the key themes and challenges encountered.

Indexed as

Lysosomal Storage DiseasesGenomicsHigh-Throughput Nucleotide SequencingHumansLysosomesClinGenClinical validityGene curationLysosomal disease

Identifiers

PMID39426251
PMCPMC11560485

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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.