Data · dataset · 2023
Feasibility to use whole-genome sequencing as a sole diagnostic method to detect genomic aberrations in pediatric B-cell acute lymphoblastic leukemia
Listed in Researchdata.se
Data from a study of 88 cases with B cell precursor acute lymphoblastic leukemia.
Description
Whole genome sequencing was performed in all cases with the aim of identifying genomic aberrations. The study was approved by the Ethical Review Board at Stockholm County and written informed consent was obtained from the patients’ guardians.
The data consists of BAM/cram files from whole genome sequencing (WGS) of diagnostic bone marrow and remission samples (Normal). Leukemia and remission samples were sequenced with a coverage of 90x and 30x respectively on Illumina HiSeq X or NovaSeq 6000 instruments. The annotation was performed by applying FindSV which merges variant caller CNVnator and TIDDIT or Manta, Delly and TIDDIT (in BALSAMIC version 10.0.5).
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Subsequently variant effect predictor was applied. For filtering of recurrent normal variants, Swegene and locusDB (in BALSAMIC). Furthermore, to narrow down the variants list, a list of diagnostic relevant gene/coordinate list were applied.
The variants were then manually analyzed by using IGV, vcf2cytosure and ASCAT tools. Data Access Statement The WGS datasets are only to be used for research aimed at advancing the understanding of genetic factors in the development of pediatric acute lymphoblastic leukemia. Applications, including those aimed at method development and bioinformatics, would only be considered as acceptable if proof of approved ethical consent is provided.
Access requests should be sent to the email address below.
Links
Where it is published
- DOI doi.org/10.17044/scilifelab.23530605 ↗
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% · Sequencing 75%
Provenance · 1 source records, 10 field assertions
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|---|---|---|---|
| Researchdata.se | oai:researchdata.se:doi-10-17044-scilifelab-23530605/0 | 10 d ago | JSON v1 |
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| 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 | |
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| title | source · researchdata se | connector:researchdata_se@1.0.0 | /metadata/dc/title |