1227-GIFT: Single-Cell Genotyping in Fixed Transcriptomes
This paper introduces Genotyping in Fixed Transcriptomes (GIFT), a novel single-cell sequencing method that simultaneously measures gene expression and genetic mutations. The technology uses single-stranded DNA probes and a gapfilling reaction to identify hundreds of targeted mutations with over 99% accuracy. Unlike previous techniques, GIFT works effectively on formalin-fixed (FFPE) archival tissues, unlocking massive repositories of clinical samples for study. The authors applied GIFT to over 700,000 cells from patients with blood cancers, revealing how specific mutations like JAK2V617F…
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