Targeted gene sequencing results
Abstract
The table details targeted gene sequencing results, including gene, cytoband, RefSeq transcript/exon, HGVS c. and p. nomenclature, inferred origin, variant allele fraction (VAF, %), read depth (x), reported association, and ACMG classification. VAF is calculated as ALT/(ALT+REF) × 100. "—" indicates data not provided in the original inspection report. Specimen: DNA from bone marrow aspirate. Putative germline origin was inferred based on VAF, population-database annotation, and clinical laboratory interpretation; however, because no matched non-hematopoietic tissue was available for definitive germline confirmation, the inheritance pattern and pathogenicity cannot be conclusively established.
Publication details
- Journal / source
- Zenodo (CERN European Organization for Nuclear Research)
- Publication date
- 4 July 2026
- Language
- CMN
- Document type
- Dataset