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Long-read Sequencing Technologies Reveal Mutations Lurking in the "Camouflaged" Genome


Long-read Sequencing Technologies Reveal Mutations Lurking in the "Camouflaged" Genome

Who's speaking at this Webinar?

Mark T. W. Ebbert
Assistant Professor, Mayo Clinic

Are standard short-read sequencing approaches overlooking important mutations in the genes you study?

The human genome contains many “dark” and “camouflaged” regions that standard short-read sequencing technologies do not adequately resolve. These regions include thousands of protein-coding genes, leaving many variants that may be relevant to human health and disease entirely overlooked.

We will discuss how well individual long-read technologies resolve dark and camouflaged regions, including 10x Genomics, PacBio, and Oxford Nanopore Technologies. We will also provide a sneak-peek into our current effort to determine how many long RNA reads are necessary to equate to the standard 50 million reads for Illumina RNA sequencing, and what new information we can gain from full-length RNA isoform sequencing.

Attend this webinar to learn:
- The differences between dark and camouflaged genes, and how to learn if your favorite gene    is dark or camouflaged
- How well 10x Genomics, PacBio, and Oxford Nanopore Technologies resolve dark and     camouflaged regions
- How many reads we need from long-read technologies for quantitative differential expression
- The new information that can be gained from full-length RNA isoform sequencing


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