Evidence map›Paper›PMID 38972591›Full record

ArticleThe Journal of molecular diagnostics : JMD2024

Validation and Implementation of a Somatic-Only Tumor Exome for Routine Clinical Application.

Parth S Shah, Edward G Hughes, Shrey S Sukhadia, Donald C Green, Brianna E Houde, Gregory J Tsongalis, Laura J Tafe

Abstract readValidation Study
In one paragraph

Article in The Journal of molecular diagnostics : JMD, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 11 papers.

0numbers the graph read from it
0cells of the map it votes in
11citing 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

11 citing papers in PubMed.

  1. Article
  2. Article
  3. Article
  4. Cribriform Tumor of the Skin: Identification of 6q and 9q Loss as a Recurrent Cytogenomic Alteration.Modern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc · 2026
    Article
  5. Review
  6. Article
  7. Solitary fibrous tumor in the pineal region: A series of 5 cases and literature review.Journal of neuropathology and experimental neurology · 2025
    Review
  8. International journal of molecular sciences · 2025
    Article
  9. Article
  10. Article
  11. 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

7 authors.

Parth S ShahLaboratory for Clinical Genomics and Advanced Technology, Department of Pathology and Laboratory Medicine, Dartmouth Hitchcock Medical Center, Lebanon, New Hampshire; Genome Informatics, Department of Pathology and Laboratory Medicine, Dartmouth Hitchcock Medical Center, Lebanon, New Hampshire; Dartmouth Cancer Center, Dartmouth Hitchcock Medical Center, Lebanon, New Hampshire.
Edward G HughesLaboratory for Clinical Genomics and Advanced Technology, Department of Pathology and Laboratory Medicine, Dartmouth Hitchcock Medical Center, Lebanon, New Hampshire.
Shrey S SukhadiaLaboratory for Clinical Genomics and Advanced Technology, Department of Pathology and Laboratory Medicine, Dartmouth Hitchcock Medical Center, Lebanon, New Hampshire; Genome Informatics, Department of Pathology and Laboratory Medicine, Dartmouth Hitchcock Medical Center, Lebanon, New Hampshire.
Donald C GreenLaboratory for Clinical Genomics and Advanced Technology, Department of Pathology and Laboratory Medicine, Dartmouth Hitchcock Medical Center, Lebanon, New Hampshire.
Brianna E HoudeLaboratory for Clinical Genomics and Advanced Technology, Department of Pathology and Laboratory Medicine, Dartmouth Hitchcock Medical Center, Lebanon, New Hampshire.
Gregory J TsongalisLaboratory for Clinical Genomics and Advanced Technology, Department of Pathology and Laboratory Medicine, Dartmouth Hitchcock Medical Center, Lebanon, New Hampshire; Dartmouth Cancer Center, Dartmouth Hitchcock Medical Center, Lebanon, New Hampshire.
Laura J TafeLaboratory for Clinical Genomics and Advanced Technology, Department of Pathology and Laboratory Medicine, Dartmouth Hitchcock Medical Center, Lebanon, New Hampshire; Dartmouth Cancer Center, Dartmouth Hitchcock Medical Center, Lebanon, New Hampshire. Electronic address: laura.j.tafe@hitchcock.org.

Funding

Translational Engineering in Cancer (TEC)P30CA023108 · NCI · DARTMOUTH COLLEGE · PI Fred W Kolling IV · 1985 to 2026
$91.3M
NCI NIH HHS P30 CA023108
6 · The paper itself

Abstract

Next-generation sequencing-based genomic testing is standard of care for tumor workflows. However, its application across different institutions continues to be challenging given the diversity of needs and resource availability among different institutions globally. Moreover, the use of a variety of different panels, including those from a few individual genes to those involving hundreds of genes, results in a relatively skewed distribution of care for patients. It is imperative to obtain a higher level of standardization without having to be restricted to specific kits or requiring repeated validations, which are generally expensive. We show the validation and clinical implementation of the DH-CancerSeq assay, a tumor-only whole-exome-based sequencing assay with integrated informatics, while providing similar input requirements, sensitivity, and specificity to a previously validated targeted gene panel and maintaining similar turnaround times for patient care.

Indexed as

ExomeExome SequencingHigh-Throughput Nucleotide SequencingNeoplasmsGenetic TestingGenomicsHumansMutationReproducibility of ResultsSensitivity and Specificity

Identifiers

PMID38972591
PMCPMC11393823

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.