Data · dataset · 2023
DNA sequencing data in MDS-patients treated with allogeneic transplantation
Listed in Researchdata.se
The deposited data consists of 47 bam files for targeted DNA sequencing and somatic mutation list called by bulk whole-genome sequencing in patients with myelodysplastic syndromes or related myeloid malignancies who received allogeneic stem cell transplantation.
Description
The objective of this data collection was to assess whether somatic mutation can be a marker for detecting early relapse. DNA sequencing was performed to identify somatic mutation candidates using samples collected at diagnosis and also performed for the comparison of the sensitivity of detection between digital droplet PCR and next-generation sequencing.
We used three different gene panels for targeted DNA sequencing and the gene lists can be found in the cited Blood paper. Read alignment was performed against the GRCh37. In two patients in whom no recurrent driver mutations were identified, whole genome sequencing was performed.
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After alignment to GRCh37, somatic mutations were called using Genomon2, and identified somatic mutation list was deposited. The total size of the deposited data is approximately 25 GB (24586652781 bytes).
Links
Where it is published
- DOI doi.org/10.48723/0k7w-2k05 ↗
DOI / persistent id · from researchdata se
Catalogue records · 1
- OAI-PMH record api.researchdata.se/oai-pmh?verb=GetRecord&metadataPrefix=oai_dc&identifier=oai%3A… ↗
metadata API · from researchdata se
Topics
- From keywords
- Earth & Environmental Science · Life Sciences · Medicine & Health
- Inferred from text
- Genome sequencing 75% · Oncology and carcinogenesis 70% · Sequencing 75%
Provenance · 1 source records, 11 field assertions
| Source | Key | Last seen | Raw |
|---|---|---|---|
| Researchdata.se | oai:researchdata.se:2023-289/1 | 12 d ago | JSON v1 |
| Field | Assertion | Extractor | Evidence |
|---|---|---|---|
| access_level | source · researchdata se | connector:researchdata_se@1.0.0 | |
| concepts[field].anzsrc:group:3211 | enrichment · researchdata se | taxonomy-embedding@1.1.0 | title+keywords+description (70%) |
| concepts[field].local:field:earth-environmental | mapping · researchdata se | connector:researchdata_se@1.0.0 | |
| concepts[field].local:field:life-sciences | mapping · researchdata se | connector:researchdata_se@1.0.0 | |
| concepts[field].local:field:medicine-health | mapping · researchdata se | connector:researchdata_se@1.0.0 | |
| concepts[modality].local:modality:genome-sequencing | enrichment · researchdata se | keyword-concept-rules@1.0.0 | title+description (75%) |
| concepts[modality].local:modality:sequencing | enrichment · researchdata se | keyword-concept-rules@1.0.0 | title+description (75%) |
| description | source · researchdata se | connector:researchdata_se@1.0.0 | /metadata/dc/description |
| license_text | source · researchdata se | connector:researchdata_se@1.0.0 | |
| publication_date | source · researchdata se | connector:researchdata_se@1.0.0 | |
| title | source · researchdata se | connector:researchdata_se@1.0.0 | /metadata/dc/title |