De novo detection of somatic variants
The Tumor Profiler Study is an observational trial combining a prospective diagnostic approach to assess the relevance of in-depth tumor profiling to support clinical decision-making with an exploratory approach to improve the biological understanding of the disease. This dataset contains scDNA-seq data for 3 ovarian cancer samples from the Tumor Profiler Study used to validate LongSom. LongSom is a computational workflow leveraging high-quality long-read scRNA-seq data to call de novo somatic single-nucleotide variants (SNVs), including in mitochondria (mtSNVs), copy-number alterations (CNAs), and gene fusions, to reconstruct tumor clonal heterogeneity.
- 26/03/2025
- 3 samples
- DAC: EGAC50000000199
- Technology: Illumina NovaSeq 6000
Studies are experimental investigations of a particular phenomenon, e.g., case-control studies on a particular trait or cancer research projects reporting matching cancer normal genomes from patients.
| Study ID | Study Title | Study Type |
|---|---|---|
| EGAS50000000885 | Cancer Genomics |
This table displays only public information pertaining to the files in the dataset. If you wish to access this dataset, please submit a request. If you already have access to these data files, please consult the download documentation.
| ID | File Type | Size | Located in | |
|---|---|---|---|---|
| EGAF50000318591 | fastq.gz | 10.6 GB | ||
| EGAF50000318592 | fastq.gz | 9.0 GB | ||
| EGAF50000318853 | fastq.gz | 7.2 GB | ||
| EGAF50000318854 | fastq.gz | 8.4 GB | ||
| EGAF50000318866 | fastq.gz | 9.0 GB | ||
| EGAF50000318867 | fastq.gz | 9.5 GB | ||
| EGAF50000318868 | fastq.gz | 11.1 GB | ||
| EGAF50000318869 | fastq.gz | 9.5 GB | ||
| EGAF50000318870 | fastq.gz | 11.1 GB | ||
| EGAF50000319007 | fastq.gz | 7.8 GB | ||
| EGAF50000319008 | fastq.gz | 9.1 GB | ||
| EGAF50000319021 | fastq.gz | 10.6 GB | ||
| 12 Files (112.8 GB) | ||||