Additional file 1 of The clinical utility and costs of whole-genome sequencing to detect cancer susceptibility variants—a multi-site prospective cohort study

  • Aimee L. Davidson (Creator)
  • Uwe Dressel (Creator)
  • Sarah Norris (Creator)
  • Daffodil M. Canson (Creator)
  • Dylan Glubb (Creator)
  • Cristina Fortuno (Creator)
  • G. Hollway (Creator)
  • Michael T. Parsons (Creator)
  • Miranda E. Vidgen (Creator)
  • Oliver Holmes (Creator)
  • Lambros T. Koufariotis (Creator)
  • Vanessa Lakis (Creator)
  • Conrad Leonard (Creator)
  • Scott Wood (Creator)
  • Qinying Xu (Creator)
  • Amy McCart Reed (Creator)
  • Hilda A. Pickett (Creator)
  • Mohammad K. Al-Shinnag (Creator)
  • Rachel Austin (Creator)
  • Jo Burke (Creator)
  • Elisa J. Cops (Creator)
  • Cassandra Nichols (Creator)
  • Annabel Goodwin (Creator)
  • Marion Harris (Creator)
  • Megan Higgins (Creator)
  • Emilia Ip (Creator)
  • Catherine Kiraly-Borri (Creator)
  • Chiyan Lau (Creator)
  • J. Mansour (Creator)
  • Michael Millward (Creator)
  • Melissa Monnik (Creator)
  • Nicholas Pachter (Creator)
  • Abiramy Ragunathan (Creator)
  • Rachel Susman (Creator)
  • Sharron Townshend (Creator)
  • Alison Trainer (Creator)
  • Simon L. Troth (Creator)
  • Katherine Tucker (Creator)
  • Mathew Wallis (Creator)
  • Maie Walsh (Creator)
  • Rachel A. Williams (Creator)
  • Ingrid Winship (Creator)
  • Felicity Newell (Creator)
  • Emma Tudini (Creator)
  • John V. Pearson (Creator)
  • Nicola Poplawski (Creator)
  • H. Fan (Creator)
  • Paul James (Creator)
  • Amanda Spurdle (Creator)
  • Nicola Waddell (Creator)
  • Robyn L. Ward (Creator)

Dataset

Description

Additional file 1: Table S1. Clinical information for all individuals recruited inclusive of index cases and family members. Table S2. Recorded risk-management strategies and related parameters. Table S3. Virtual gene panels used. Table S4. Variants identified within the 195 index cases that were prioritised for review at the multidisciplinary team meetings. Table S5. Estimation of average costs per affected individual for testing practice using targeted genes or gene panels, or whole genome sequencing. Table S6. Comparison of the costs and consequences of the different testing strategies. Table S7. Marginal analysis of the costs and consequences of the different testing strategies. Table S8. Summary of changes made to risk-management of index cases who were found to carry a likely pathogenic or pathogenic variant.
Date made available2023
PublisherFigshare
  • The clinical utility and costs of whole-genome sequencing to detect cancer susceptibility variants—a multi-site prospective cohort study

    Davidson, A. L., Dressel, U., Norris, S., Canson, D. M., Glubb, D. M., Fortuno, C., Hollway, G. E., Parsons, M. T., Vidgen, M. E., Holmes, O., Koufariotis, L. T., Lakis, V., Leonard, C., Wood, S., Xu, Q., McCart Reed, A. E., Pickett, H. A., Al-Shinnag, M. K., Austin, R. L. & Burke, J. & 31 others, Cops, E. J., Nichols, C. B., Goodwin, A., Harris, M. T., Higgins, M. J., Ip, E. L., Kiraly-Borri, C., Lau, C., Mansour, J. L., Millward, M. W., Monnik, M. J., Pachter, N. S., Ragunathan, A., Susman, R. D., Townshend, S. L., Trainer, A. H., Troth, S. L., Tucker, K. M., Wallis, M. J., Walsh, M., Williams, R. A., Winship, I. M., Newell, F., Tudini, E., Pearson, J. V., Poplawski, N. K., Mar Fan, H. G., James, P. A., Spurdle, A. B., Waddell, N. & Ward, R. L., 19 Sept 2023, In: Genome Medicine. 15, 16 p., 74.

    Research output: Contribution to journalArticlepeer-review

    Open Access
    5 Citations (Scopus)

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