Evidence map›Paper›PMID 40855447›Full record

ArticleGenome biology2025

DelSIEVE: cell phylogeny modeling of single nucleotide variants and deletions from single-cell DNA sequencing data.

Senbai Kang, Nico Borgsmüller, Monica Valecha, Magda Markowska, Jack Kuipers, Niko Beerenwinkel, David Posada, Ewa Szczurek

Abstract read
In one paragraph

Article in Genome biology, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.

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2citing papers in PubMed
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1 · What the graph read from it

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3 · Its place in the literature

Who cites it

2 citing papers in PubMed.

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4 · The record

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5 · Who and what money

Authors and funding

8 authors.

Senbai KangFaculty of Mathematics, Informatics and Mechanics, University of Warsaw, Warsaw, Poland.
Nico BorgsmüllerDepartment of Biosystems Science and Engineering, ETH Zurich, Basel, 4058, Switzerland.
Monica ValechaCINBIO, Universidade de Vigo, Vigo, 36310, Spain.
Magda MarkowskaFaculty of Mathematics, Informatics and Mechanics, University of Warsaw, Warsaw, Poland.
Jack KuipersDepartment of Biosystems Science and Engineering, ETH Zurich, Basel, 4058, Switzerland.
Niko BeerenwinkelDepartment of Biosystems Science and Engineering, ETH Zurich, Basel, 4058, Switzerland.
David PosadaCINBIO, Universidade de Vigo, Vigo, 36310, Spain.
Ewa SzczurekFaculty of Mathematics, Informatics and Mechanics, University of Warsaw, Warsaw, Poland. ewa.szczurek@helmholtz-munich.de.

Funding

FP7 Ideas: European Research Council ERC-617457-PHYLOCANCERH2020 Marie Skłodowska-Curie Actions 766030Ministerio de Ciencia e Innovación PID2019-106247GB-I00Polish National Science Centre SONATA BIS 2020/38/E/NZ2/00305
6 · The paper itself

Abstract

With rapid advancements in single-cell DNA sequencing (scDNA-seq), various computational methods have been developed to study evolution and call variants on single-cell level. However, modeling deletions remains challenging because they affect total coverage in ways that are difficult to distinguish from technical artifacts. We present DelSIEVE, a statistical method that infers cell phylogeny and single-nucleotide variants, accounting for deletions, from scDNA-seq data. DelSIEVE distinguishes deletions from mutations and artifacts, detecting more evolutionary events than previous methods. Simulations show high performance, and application to cancer samples reveals varying amounts of deletions and double mutants in different tumors.

Indexed as

PhylogenyPolymorphism, Single NucleotideSequence Analysis, DNASequence DeletionSingle-Cell AnalysisSoftwareHumansNeoplasmsAcquisition bias correctionCell phylogeny reconstructionColorectal cancerDeletionsSingle-cell DNA sequencingSingle nucleotide variantsStatistical phylogenetic modelsTriple negative breast cancer

Identifiers

PMID40855447
PMCPMC12376439

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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.