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.

Type: Other
Archiver: European Genome-Phenome Archive (EGA)

1 Dataset 1 Publication

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	Bulk tumour, germline and DigiPico WGS BAM files from patients 11611, 11615, 11619	Illumina HiSeq 4000	8

Publications	Citations
Completing a genomic characterisation of microscopic tumour samples with copy number. Nulsen J, Hussain N, Al-Deka A, Yap J, Uddin K, Yau C, Ahmed AA. BMC Bioinformatics 24: 2023 453	1