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ASHG PacBio Workshop: Resolving complexity of the human genome

Evan Eichler, Howard Hughes Medical Investigator from the University of Washington discusses his use of the PacBio system to study difficult-to-sequence regions of the human and chimp genomes. Eichler has identified a number of rapidly evolving hot spots in the human genome that are associated with disease. These regions are quite long and have extremely repetitive DNA sequence, making them difficult to elucidate with short-read sequencing and very expensive to interrogate with Sanger sequencing. Eichler’s goal is to fill in the missing regions of the human genome reference, many of which contain segmental duplications.

 

Press Release

Pacific Biosciences Announces New Chief Executive Officer

Friday, August 7, 2020

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