High-Definition Biotechnology

New approaches for single cell genome sequencing and mutation analysis

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  Paul Blainey

  Associate Professor of Biological Engineering and Core Member
  MIT Department of Biological Engineering and Broad Institute of MIT and Harvard

Microfluidics and whole-genome amplification are enabling single-cell genomic analyses. At the same time, these technologies limit single-cell genomic studies by imposing cost and complexity (microfluidics) and degrading data quality (whole-genome amplification). Here I will present two new methods for single-cell genome analysis, one that requires no microfluidics or specialized equipment for direct single-cell genome amplification and another that leverages culture-based amplification rather than biochemical amplification to enable studies of de novo mutations in single cells.