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Developing somatic copy number and mutation calling tools for a bespoke sequencing platform

We previously developed a linked-read sequencing platform (DigiPico) for analysing whole cancer genomes from picogram quantities of tumour DNA. The aim of this study was to develop and evaluate the specialised computational approaches required to obtain clinically useful results from the raw data. To this end, we performed matched DigiPico, bulk tumour and germline WGS on samples from four patients.

Click on a Dataset ID in the table below to learn more, and to find out who to contact about access to these data

Dataset ID Description Technology Samples
EGAD00001010302 Illumina HiSeq 4000 unspecified 11
Publications Citations
Completing a genomic characterisation of microscopic tumour samples with copy number.
BMC Bioinformatics 24: 2023 453