Recent advances in DNA sequencing technologies have revolutionized our ability to discover and analyze specific genetic mutations. While sequencing is sensitive to single nucleotide polymorphisms (SNPs) and smaller genetic variants, current approaches are unable to resolve many of the disease-causing structural variants that may be present across an individual genome. With typical read lengths of 150 bases, short-read DNA sequencing platforms provide a very limited view of these structural changes, even with the application of super-computer-scale bioinformatics analysis. So-called ‘long-read’ technologies only analyze on average a few tens of thousands of bases, which is a tiny fraction of intact human chromosomes that range in size from 47 million to 250 million base pairs. Peer-reviewed publications continue to cite the need for a technology capable of extracting and analyzing entire chromosomes to detect the full spectrum of structural variation and transform our understanding of the role it plays in cellular function, disease susceptibility and disease progression. At the lab bench, simple tasks such as fragment sizing still require the use of cumbersome techniques such as gel electrophoresis. These methods can require large amounts of input sample and, for larger DNA fragments, require run times of a full day or longer. The ability to rapidly analyze DNA from a small number of cells would remove the need for cell culturing and allow the analysis of unculturable samples, such as needle biopsies and primary cells. Genturi Co-founders, Prof. J. Michael Ramsey and Dr. Laurent Menard at the University of North Carolina at Chapel Hill, have dedicated the last decade to developing nanofluidic approaches capable of extracting and analyzing millions of DNA molecules, one-by-one. Genturi’s nanofluidic products will soon enable the rapid analysis of DNA molecules from 100 base pairs up to millions of base pairs, all in a single device.
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