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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
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  Data: 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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  Data: <searchLink fieldCode="AU" term="%22More+RP%22">More RP</searchLink>; Department of Paediatrics, University of Cambridge, Hills Road, Cambridge, CB2 0QQ, UK.<br /><searchLink fieldCode="AU" term="%22Sumathipala+D%22">Sumathipala D</searchLink>; Department of Paediatrics, University of Cambridge, Hills Road, Cambridge, CB2 0QQ, UK.<br /><searchLink fieldCode="AU" term="%22Dolling+H%22">Dolling H</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Downes+K%22">Downes K</searchLink>; NHS East Genomic Laboratory Hub, Cambridge Biomedical Campus, Cambridge, CB2 0QQ, UK.<br /><searchLink fieldCode="AU" term="%22Bowdin+S%22">Bowdin S</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Ahn+J%22">Ahn J</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Morris+S%22">Morris S</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Rowitch+DH%22">Rowitch DH</searchLink>; 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.
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  Data: <searchLink fieldCode="JN" term="%22101247089%22">European journal of medical genetics</searchLink> [Eur J Med Genet] 2025 Dec; Vol. 78, pp. 105051. <i>Date of Electronic Publication: </i>2025 Sep 29.
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  Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22Elsevier%22">Elsevier </searchLink><i>Country of Publication: </i>Netherlands <i>NLM ID: </i>101247089 <i>Publication Model: </i>Print-Electronic <i>Cited Medium: </i>Internet <i>ISSN: </i>1878-0849 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2217697212%22">17697212 </searchLink><i>NLM ISO Abbreviation: </i>Eur J Med Genet <i>Subsets: </i>MEDLINE
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              Text: 2025 Dec
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