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Area of Science:

  • Genomics
  • Molecular Biology
  • Biotechnology

Background:

  • Genetic variants significantly impact gene function and expression, contributing to diseases like cancer.
  • Studying endogenous genetic variants is challenging due to limitations in gene editing tools and genotype-to-gene expression linkage at single-cell resolution.

Purpose of the Study:

  • To develop a method for simultaneously profiling genetic variants and gene expression at single-cell resolution.
  • To accurately link coding and noncoding genetic variants to their effects on gene expression.

Main Methods:

  • Development of single-cell DNA-RNA sequencing (SDR-seq).
  • Simultaneous profiling of up to 480 genomic DNA loci and genes in thousands of single cells.
  • Determination of variant zygosity and associated gene expression changes.

Main Results:

  • SDR-seq accurately determines coding and noncoding variant zygosity and associated gene expression.
  • Distinct gene expression patterns were associated with coding and noncoding variants in human induced pluripotent stem cells.
  • Increased mutational burden in B cell lymphoma correlated with elevated B cell receptor signaling and tumorigenic gene expression.

Conclusions:

  • SDR-seq is a powerful platform for dissecting regulatory mechanisms of genetic variants.
  • The study advances understanding of gene expression regulation and its role in disease.
  • This method enables linking genotypes to gene expression at single-cell resolution for disease research.