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
DUO:0000021 version: 2021-02-23
ethics approval required
This data use modifier indicates that the requestor must provide documentation of local IRB/ERB approval.
DUO:0000022 version: 2021-02-23
geographical restriction
This data use modifier indicates that use is limited to within a specific geographic region.
Tumor Profiler Data Access Agreement
Data sharing for the TuPro Study datasets is limited to countries deemed to provide an adequate level of data protection under Swiss legislation (https://www.bj.admin.ch/bj/en/home/staat/datenschutz/internationales/anerkennung-staaten.html) in compliance with the Swiss Human Research Act and the conditions specified in patient informed consent.
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 | Quality Report |
Located in
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| EGAF50000318591 | fastq.gz | 10.6 GB |
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| EGAF50000318592 | fastq.gz | 9.0 GB |
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| EGAF50000318853 | fastq.gz | 7.2 GB |
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| EGAF50000318854 | fastq.gz | 8.4 GB |
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| EGAF50000318866 | fastq.gz | 9.0 GB |
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| EGAF50000318867 | fastq.gz | 9.5 GB |
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| EGAF50000318868 | fastq.gz | 11.1 GB |
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| EGAF50000318869 | fastq.gz | 9.5 GB |
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| EGAF50000318870 | fastq.gz | 11.1 GB |
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| EGAF50000319007 | fastq.gz | 7.8 GB |
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| EGAF50000319008 | fastq.gz | 9.1 GB |
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| EGAF50000319021 | fastq.gz | 10.6 GB |
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| 12 Files (112.8 GB) | ||||
