Study

Identification of fusion transcripts by RNA-sequencing and Whole genome sequencing of a METABRIC patient sample

Study ID Alternative Stable ID Type
EGAS00001002475 Other

Study Description

Fusion transcripts and their exact breakpoints were identified in RNA-seq data (30X) of an ER-,HER2+ breast cancer. DNA-level breakpoints associated with the fusion events were determined by analyzing whole genome sequencing (WGS) data (30X) from the same donor. The RNA-seq and WGS data for this case were generated on the Illumina platform using standard protocols. The patient (MB-0152) derives from the METABRIC cohort for which array based copy number and gene expression data were previously described (EGAS00000000083).

Study Datasets 2 dataset.

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Dataset ID Description Technology Samples
EGAD00001003342 Identification of fusion transcripts by RNA-sequencing and Whole genome sequencing of a breast cancer patient sample (METABRIC ID MB-0152) Illumina HiSeq 2000 3
EGAD00001004896 In order to reconstruct the evolutionary history of metastatic colorectal cancer, we performed whole-exome sequencing of 12 metastatic colorectal cancer patients for whom the primary tumor and matched distant metastases to the brain (n=10) and liver (n=2). For 8 of the 12 patients, multiple regions (n=3-7) of the primary tumor and distant metastases were sequenced. Illumina HiSeq 2000 Illumina HiSeq 2500 163

Who archives the data?

Publications

Publications Citations
Promoter of lncRNA Gene PVT1 Is a Tumor-Suppressor DNA Boundary Element.
Cell 173:2018 1398-1412.e22
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