Targeted gene sequencing results

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Authors: Wu, Yuqing
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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