{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"submitter":["Mitchell J"],"funding":["Associazione Italiana per la Ricerca sul Cancro","Wellcome Trust"],"pagination":["323"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC10796348"],"repository":["biostudies-literature"],"omics_type":["Unknown"],"volume":["15(1)"],"pubmed_abstract":["The unexpected contamination of normal samples with tumour cells reduces variant detection sensitivity, compromising downstream analyses in canonical tumour-normal analyses. Leveraging whole-genome sequencing data available at Genomics England, we develop a tool for normal sample contamination assessment, which we validate in silico and against minimal residual disease testing. From a systematic review of [Formula: see text] patients with haematological malignancies and sarcomas, we find contamination across a range of cancer clinical indications and DNA sources, with highest prevalence in saliva samples from acute myeloid leukaemia patients, and sorted CD3+ T-cells from myeloproliferative neoplasms. Further exploration reveals 108 hotspot mutations in genes associated with haematological "],"journal":["Nature communications"],"pubmed_title":["Clinical application of tumour-in-normal contamination assessment from whole genome sequencing."],"pmcid":["PMC10796348"],"funding_grant_id":["24913"],"pubmed_authors":["Mitchell J","Bartram J","Yavorska O","Thomas R","Vago L","Caravagna G","Walker S","Volkova N","Zarowiecki M","Sosinsky A","Chalker J","Milite S"],"additional_accession":[]},"is_claimable":false,"name":"Clinical application of tumour-in-normal contamination assessment from whole genome sequencing.","description":"The unexpected contamination of normal samples with tumour cells reduces variant detection sensitivity, compromising downstream analyses in canonical tumour-normal analyses. Leveraging whole-genome sequencing data available at Genomics England, we develop a tool for normal sample contamination assessment, which we validate in silico and against minimal residual disease testing. From a systematic review of [Formula: see text] patients with haematological malignancies and sarcomas, we find contamination across a range of cancer clinical indications and DNA sources, with highest prevalence in saliva samples from acute myeloid leukaemia patients, and sorted CD3+ T-cells from myeloproliferative neoplasms. Further exploration reveals 108 hotspot mutations in genes associated with haematological ","dates":{"release":"2024-01-01T00:00:00Z","publication":"2024 Jan","modification":"2026-06-03T14:27:13.835Z","creation":"2025-04-04T19:22:23.016Z"},"accession":"S-EPMC10796348","cross_references":{"pubmed":["38238294"],"doi":["10.1038/s41467-023-44158-2"]}}