遇见数据集

Targeted gene sequencing results

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Zenodo2026-07-04 更新2026-08-02 收录
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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.

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Zenodo
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2026-07-04
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