Evidence map›Paper›PMID 38676578›Full record

ArticleBioinformatics (Oxford, England)2024

CopyVAE: a variational autoencoder-based approach for copy number variation inference using single-cell transcriptomics.

Semih Kurt, Mandi Chen, Hosein Toosi, Xinsong Chen, Camilla Engblom, Jeff Mold, Johan Hartman, Jens Lagergren

Abstract read
In one paragraph

Article in Bioinformatics (Oxford, England), 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 6 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
6citing papers in PubMed, 1 pooled it
–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

6 citing papers in PubMed, 1 synthesis or guideline pooled it.

  1. Pooled it
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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

8 authors.

Semih KurtSchool of EECS and SciLifeLab, KTH Royal Institute of Technology, Stockholm, 100 44, Sweden.ORCID 0000-0002-9760-9140
Mandi ChenSchool of EECS and SciLifeLab, KTH Royal Institute of Technology, Stockholm, 100 44, Sweden.ORCID 0000-0003-1880-1730
Hosein ToosiSchool of EECS and SciLifeLab, KTH Royal Institute of Technology, Stockholm, 100 44, Sweden.
Xinsong ChenDepartment of Oncology and Pathology, Karolinska Institutet, Solna, 171 77, Sweden.ORCID 0000-0002-3214-9075
Camilla EngblomDepartment of Cell and Molecular Biology, Karolinska Institutet, Solna, 171 77, Sweden.
Jeff MoldDepartment of Cell and Molecular Biology, Karolinska Institutet, Solna, 171 77, Sweden.
Johan HartmanDepartment of Oncology and Pathology, Karolinska Institutet, Solna, 171 77, Sweden.
Jens LagergrenSchool of EECS and SciLifeLab, KTH Royal Institute of Technology, Stockholm, 100 44, Sweden.

Funding

Swedish Research Council 2022-03516_VR
6 · The paper itself

Abstract

motivationCopy number variations (CNVs) are common genetic alterations in tumour cells. The delineation of CNVs holds promise for enhancing our comprehension of cancer progression. Moreover, accurate inference of CNVs from single-cell sequencing data is essential for unravelling intratumoral heterogeneity. However, existing inference methods face limitations in resolution and sensitivity.

resultsTo address these challenges, we present CopyVAE, a deep learning framework based on a variational autoencoder architecture. Through experiments, we demonstrated that CopyVAE can accurately and reliably detect CNVs from data obtained using single-cell RNA sequencing. CopyVAE surpasses existing methods in terms of sensitivity and specificity. We also discussed CopyVAE's potential to advance our understanding of genetic alterations and their impact on disease advancement. AVAILABILITY AND IMPLEMENTATION: CopyVAE is implemented and freely available under MIT license at https://github.com/kurtsemih/copyVAE.

Indexed as

DNA Copy Number VariationsSingle-Cell AnalysisDeep LearningHumansNeoplasmsSequence Analysis, RNASoftwareTranscriptome

Identifiers

PMID38676578
PMCPMC11087824

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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.