Abstract
Background: Genomic insights in settings where tumour sample sizes are limited to just hundreds or even tens of cells hold great clinical potential, but also present significant technical challenges. We previously developed the DigiPico sequencing platform to accurately identify somatic mutations from such samples. Results: Here, we complete this genomic characterisation with copy number. We present a novel protocol, PicoCNV, to call allele-specific somatic copy number alterations from picogram quantities of tumour DNA. We find that PicoCNV provides exactly accurate copy number in 84% of the genome for even the smallest samples, and demonstrate its clinical potential in maintenance therapy. Conclusions: PicoCNV complements our existing platform, allowing for accurate and comprehensive genomic characterisations of cancers in settings where only microscopic samples are available.
Original language | English |
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Article number | 453 |
Number of pages | 17 |
Journal | BMC Bioinformatics |
Volume | 24 |
Issue number | 1 |
DOIs | |
Publication status | Published - 30 Nov 2023 |
Bibliographical note
FundingThis work was funded by Ovarian Cancer Action grant numbers HER00760 and HER01150, as well as by Singula Bio Ltd.
Keywords
- Cancer genomics
- Copy number
- Microscopic samples