{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"submitter":["Samsom KG"],"funding":["Hartwig Medical Foundation","ZonMw"],"pagination":["179-188"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC9546477"],"repository":["biostudies-literature"],"omics_type":["Unknown"],"volume":["258(2)"],"pubmed_abstract":["The current increase in number and diversity of targeted anticancer agents poses challenges to the logistics and timeliness of molecular diagnostics (MolDx), resulting in underdiagnosis and treatment. Whole-genome sequencing (WGS) may provide a sustainable solution for addressing current as well as future diagnostic challenges. The present study therefore aimed to prospectively assess feasibility, validity, and value of WGS in routine clinical practice. WGS was conducted independently of, and in parallel with, standard of care (SOC) diagnostics on routinely obtained tumor samples from 1,200 consecutive patients with metastatic cancer. Results from both tests were compared and discussed in a dedicated tumor board. From 1,200 patients, 1,302 samples were obtained, of which 1,216 contained tu"],"journal":["The Journal of pathology"],"pubmed_title":["Feasibility of whole-genome sequencing-based tumor diagnostics in routine pathology practice."],"pmcid":["PMC9546477"],"funding_grant_id":["446002004"],"pubmed_authors":["Schoenmaker L","van den Berg JG","Cuppen E","van der Hoeven JJ","van der Noort V","Buffart TE","Meijer GA","Roepman P","Klompenhouwer EG","van Snellenberg H","Monkhorst K","Schout D","Voest EE","Schipper LJ","de Langen AJ","Bosch LJ","van der Kolk LE","Riethorst I","Lalezari F","de Bruijn E","Samsom KG"],"additional_accession":[]},"is_claimable":false,"name":"Feasibility of whole-genome sequencing-based tumor diagnostics in routine pathology practice.","description":"The current increase in number and diversity of targeted anticancer agents poses challenges to the logistics and timeliness of molecular diagnostics (MolDx), resulting in underdiagnosis and treatment. Whole-genome sequencing (WGS) may provide a sustainable solution for addressing current as well as future diagnostic challenges. The present study therefore aimed to prospectively assess feasibility, validity, and value of WGS in routine clinical practice. WGS was conducted independently of, and in parallel with, standard of care (SOC) diagnostics on routinely obtained tumor samples from 1,200 consecutive patients with metastatic cancer. Results from both tests were compared and discussed in a dedicated tumor board. From 1,200 patients, 1,302 samples were obtained, of which 1,216 contained tu","dates":{"release":"2022-01-01T00:00:00Z","publication":"2022 Oct","modification":"2025-04-22T01:56:41.815Z","creation":"2025-04-05T20:09:30.39Z"},"accession":"S-EPMC9546477","cross_references":{"pubmed":["35792649"],"doi":["10.1002/path.5988"]}}