{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"submitter":["Kuipers J"],"funding":["Swiss National Science Foundation","European Research Council"],"pagination":["btaf072"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC11897432"],"repository":["biostudies-literature"],"omics_type":["Unknown"],"volume":["41(3)"],"pubmed_abstract":["<h4>Motivation</h4>Copy number alterations are driving forces of tumour development and the emergence of intra-tumour heterogeneity. A comprehensive picture of these genomic aberrations is therefore essential for the development of personalised and precise cancer diagnostics and therapies. Single-cell sequencing offers the highest resolution for copy number profiling down to the level of individual cells. Recent high-throughput protocols allow for the processing of hundreds of cells through shallow whole-genome DNA sequencing. The resulting low read-depth data poses substantial statistical and computational challenges to the identification of copy number alterations.<h4>Results</h4>We developed SCICoNE, a statistical model and MCMC algorithm tailored to single-cell copy number profiling fr"],"journal":["Bioinformatics (Oxford, England)"],"pubmed_title":["Single-cell copy number calling and event history reconstruction."],"pmcid":["PMC11897432"],"funding_grant_id":["609883","179518","310030"],"pubmed_authors":["Ferreira PF","Jahn K","Kuipers J","Tuncel MA","Beerenwinkel N"],"additional_accession":[]},"is_claimable":false,"name":"Single-cell copy number calling and event history reconstruction.","description":"<h4>Motivation</h4>Copy number alterations are driving forces of tumour development and the emergence of intra-tumour heterogeneity. A comprehensive picture of these genomic aberrations is therefore essential for the development of personalised and precise cancer diagnostics and therapies. Single-cell sequencing offers the highest resolution for copy number profiling down to the level of individual cells. Recent high-throughput protocols allow for the processing of hundreds of cells through shallow whole-genome DNA sequencing. The resulting low read-depth data poses substantial statistical and computational challenges to the identification of copy number alterations.<h4>Results</h4>We developed SCICoNE, a statistical model and MCMC algorithm tailored to single-cell copy number profiling fr","dates":{"release":"2025-01-01T00:00:00Z","publication":"2025 Mar","modification":"2025-04-04T09:07:56.344Z","creation":"2025-04-04T09:07:56.344Z"},"accession":"S-EPMC11897432","cross_references":{"pubmed":["39946094"],"doi":["10.1093/bioinformatics/btaf072"]}}