Evidence map›Paper›PMID 41576301›Full record

ArticleJCO clinical cancer informatics2026

Assessing the Detection Power of Genome-Wide Copy Number Variation Profiles in Prostate Cancer Using Simulated Shallow Whole-Genome Sequencing Data.

Samhita Pamidimarri Naga, Peter H J Slootbeek, Sofie H Tolmeijer, Christian Gillissen, Marjolijn J L Ligtenberg, Niven Mehra, Richarda M de Voer

Abstract read
In one paragraph

Article in JCO clinical cancer informatics, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

0numbers the graph read from it
0cells of the map it votes in
1citing 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

1 citing paper in PubMed.

  1. 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.

Samhita Pamidimarri NagaDepartment of Medical Oncology, Research Institute for Medical Innovation, Radboud University Medical Center, Nijmegen, the Netherlands.ORCID 0009-0006-4511-2585
Peter H J SlootbeekDepartment of Medical Oncology, Research Institute for Medical Innovation, Radboud University Medical Center, Nijmegen, the Netherlands.ORCID 0000-0002-5635-919X
Sofie H TolmeijerDepartment of Medical Oncology, Research Institute for Medical Innovation, Radboud University Medical Center, Nijmegen, the Netherlands.ORCID 0000-0003-4066-885X
Christian GillissenDepartment of Human Genetics, Research Institute for Medical Innovation, Radboud University Medical Center, Nijmegen, the Netherlands.ORCID 0000-0003-1693-9699
Marjolijn J L LigtenbergDepartment of Human Genetics, Research Institute for Medical Innovation, Radboud University Medical Center, Nijmegen, the Netherlands.ORCID 0000-0003-1290-1474
Niven MehraDepartment of Medical Oncology, Research Institute for Medical Innovation, Radboud University Medical Center, Nijmegen, the Netherlands.ORCID 0000-0002-4794-1831
Richarda M de VoerDepartment of Human Genetics, Research Institute for Medical Innovation, Radboud University Medical Center, Nijmegen, the Netherlands.ORCID 0000-0002-8222-0343

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

purposeShallow whole-genome sequencing (sWGS) is a cost-effective approach for detecting genome wide copy number profiles in tumor samples. In metastatic castration-resistant prostate cancer (mCRPC), recognizing homologous recombination deficiency (HRD) and tandem duplication (TD) genomic profiles may contribute to improved treatment choices such as poly (ADP-ribose) polymerase inhibitors. This study aims to determine the minimum sequencing depth and tumor content (TC) required to accurately identify these clinically significant genomic profiles using sWGS. MATERIALS AND

methodsWhole-genome sequencing (WGS) data from 168 tumor and matched normal biopsies from 155 patients with mCRPC were mixed in silico to generate a set of 3,360 mixtures with varying TCs (original, 20%, 10%, 5%, 3%) and sequencing depths (original, 5×, 2×, 1×, 0.1×). Copy number variations (CNVs) were analyzed using ichorCNA and WisecondorX at different window sizes.

resultsAn average sequencing depth of 1× at 20% TC was found to be sufficient to detect CNVs with high sensitivity (>0.85) and high specificity (>0.95). For HRD and TD profile detection, ichorCNA at a 50 Kb window size was optimal and a reliable detection of HRD profiles was achieved with a very strong correlation of R = 0.88 (

conclusionIn this study, through in silico simulations of WGS data, we demonstrate that the genomic scars of two druggable genomic profiles, HRD and TD, can be reliably detected in mCRPC with 1× average sequencing depth and ≥20% TC. Further research is required to correlate these markers with outcome of specific treatments using sWGS.

Indexed as

Biomarkers, TumorDNA Copy Number VariationsProstatic NeoplasmsProstatic Neoplasms, Castration-ResistantWhole Genome SequencingComputer SimulationGenomicsHumansMaleBiomarkers, Tumor

Identifiers

PMID41576301
PMCPMC12834301

What Socratic 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 Socratic graph.