Study
Whole genome, transcriptome and methylome profiling enhances actionable target discovery in high-risk paediatric cancer
Study ID | Alternative Stable ID | Type |
---|---|---|
EGAS00001004572 | Other |
Study Description
Zero Childhood Cancer is a precision medicine program to benefit children with poor-outcome, rare, relapsed or refractory cancer. Utilising tumour and germline whole genome sequencing (WGS) and RNA sequencing (RNAseq) across 252 tumours from high-risk paediatric cancer patients, we identified 968 reportable molecular aberrations (39.9% in WGS and RNAseq, 35.1% WGS-only, 25.0% RNAseq-only). 93.7% of patients had at least one germline or somatic aberration, 71.4% had therapeutic targets and 5.2% had a change in diagnosis. WGS identified pathogenic cancer-predisposing variants in 16.2% of patients. In 76 CNS tumours, methylome analysis confirmed diagnosis in 71.1% and contributed to a change of diagnosis in two cases (2.6%). To date 43 patients have received a recommended therapy, 38 of whom could be evaluated. A small but encouraging proportion of 31% showed some evidence of clinical benefit. Comprehensive molecular profiling resolved the molecular basis of virtually all high-risk cancers, which in some cases has significant clinical impact.
Study Datasets 8 datasets.
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 |
---|---|---|---|
EGAD00001006876 |
Bulk RNA-seq data of tumours in EGAS00001004572.
|
NextSeq 500 | 226 |
EGAD00001006902 |
Bulk WGS fastq files for germline and tumours in EGAS00001004572.
|
HiSeq X Ten | 480 |
EGAD00001006906 |
Bulk GRIDSS somatic sv vcfs from tumour-normal analysis in EGAS00001004572
|
500 | |
EGAD00001006907 |
Bulk Strelka somatic snv vcfs from tumour-normal analysis in EGAS00001004572
|
500 | |
EGAD00001006908 |
Bulk copy number segments from Purple analysis in EGAS00001004572
|
252 | |
EGAD00001006909 |
Bulk methylation tumour profiles from infinium methylation epic bead kit in EGAS00001004572
|
76 | |
EGAD00001006910 |
Bulk Germline snv vcfs from haplotypecaller analysis in EGAS00001004572
|
247 | |
EGAD00001008358 |
In vitro and in vivo drug screens of tumor cells identify novel therapies for high-risk child cancer
|
HiSeq X Ten,NextSeq 500 | 94 |
Who archives the data?

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