Journal article
Comparison of actionable events detected in cancer genomes by whole-genome sequencing, in silico whole-exome and mutation panels
P Ramarao-Milne, O Kondrashova, AM Patch, K Nones, LT Koufariotis, F Newell, V Addala, V Lakis, O Holmes, C Leonard, S Wood, Q Xu, P Mukhopadhyay, MM Naeini, D Steinfort, JP Williamson, M Bint, C Pahoff, PT Nguyen, S Twaddell Show all
ESMO Open | Published : 2022
Abstract
Background: Next-generation sequencing is used in cancer research to identify somatic and germline mutations, which can predict sensitivity or resistance to therapies, and may be a useful tool to reveal drug repurposing opportunities between tumour types. Multigene panels are used in clinical practice for detecting targetable mutations. However, the value of clinical whole-exome sequencing (WES) and whole-genome sequencing (WGS) for cancer care is less defined, specifically as the majority of variants found using these technologies are of uncertain significance. Patients and methods: We used the Cancer Genome Interpreter and WGS in 726 tumours spanning 10 cancer types to identify drug repurp..
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Grants
Awarded by Ian Potter Foundation
Funding Acknowledgements
This work was funded by the Australian National Health and Medical Research Council (NHMRC) [grant numbers APP1089404, APP1147118], Australian Genomics [NHMRC grant numbers GNT1113531, GNT2000001] and the Cancer Council Queensland/Cancer Australia (Ref#1147067; the contents of the published material are solely the responsibility of the administering institution, a participating institution or individual authors and do not reflect the views of Cancer Australia). NW is funded by a NHMRC Senior Research Fellowship [grant number APP1139071]. This work and this research was carried out on QIMR Berghofer computing infrastructure supported by The Ian Potter Foundation and The John Thomas Wilson Endowment.