Cost-comparison of resequencing versus archival data methods for periodic reanalysis of genomic data in rare diseases diagnosis: A UK pilot analysis.

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Title: Cost-comparison of resequencing versus archival data methods for periodic reanalysis of genomic data in rare diseases diagnosis: A UK pilot analysis.
Authors: More RP; Department of Paediatrics, University of Cambridge, Hills Road, Cambridge, CB2 0QQ, UK., Sumathipala D; Department of Paediatrics, University of Cambridge, Hills Road, Cambridge, CB2 0QQ, UK., Dolling H; Department of Paediatrics, University of Cambridge, Hills Road, Cambridge, CB2 0QQ, UK; Centre for Child, Adolescent and Family Research, Department of Psychology, University of Cambridge, CB2 3RF, UK., Downes K; NHS East Genomic Laboratory Hub, Cambridge Biomedical Campus, Cambridge, CB2 0QQ, UK., Bowdin S; NHS East Genomic Laboratory Hub, Cambridge Biomedical Campus, Cambridge, CB2 0QQ, UK; Cambridge University Hospitals NHS Foundation Trust, Cambridge Biomedical Campus, Cambridge, CB2 0QQ, UK., Ahn J; Department of Paediatrics, University of Cambridge, Hills Road, Cambridge, CB2 0QQ, UK; NHS East Genomic Laboratory Hub, Cambridge Biomedical Campus, Cambridge, CB2 0QQ, UK; Cambridge University Hospitals NHS Foundation Trust, Cambridge Biomedical Campus, Cambridge, CB2 0QQ, UK., Morris S; NIHR Cambridge Biomedical Research Centre, Cambridge, CB2 0QQ, UK; Primary Care Unit, Department of Public Health & Primary Care, University of Cambridge, Cambridge, CB2 0SR, UK., Rowitch DH; Department of Paediatrics, University of Cambridge, Hills Road, Cambridge, CB2 0QQ, UK; NIHR Cambridge Biomedical Research Centre, Cambridge, CB2 0QQ, UK; Cambridge University Hospitals NHS Foundation Trust, Cambridge Biomedical Campus, Cambridge, CB2 0QQ, UK; Department of Pediatrics, Cedars-Sinai Guerin Children's, Los Angeles, CA, 90048, USA. Electronic address: dhr25@cam.ac.uk.
Source: European journal of medical genetics [Eur J Med Genet] 2025 Dec; Vol. 78, pp. 105051. Date of Electronic Publication: 2025 Sep 29.
Publication Type: Journal Article; Comparative Study
Journal Info: Publisher: Elsevier Country of Publication: Netherlands NLM ID: 101247089 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1878-0849 (Electronic) Linking ISSN: 17697212 NLM ISO Abbreviation: Eur J Med Genet Subsets: MEDLINE
Database: MEDLINE Ultimate
Description
ISSN:1878-0849
DOI:10.1016/j.ejmg.2025.105051