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 drive inflammatory responses and disease progression. By linking genotype to phenotype at an unprecedented scale, the method allows researchers to reconstruct the evolutionary lineages of tumors. Ultimately, GIFT provides a powerful framework for understanding how somatic mutations shape cellular behavior in both healthy and diseased human tissues.References:Blattman S B, Maslah N, Varela A A, et al. Scalable genotyping in fixed transcriptomes resolves clonal heterogeneity via single-cell sequencing[J]. bioRxiv, 2026.前往小宇宙评论区与主播互动