June 1, 2021

Candidate gene screening using long-read sequencing

Author(s): Ekholm, Jenny and Hon, Ting and Tsai, Yu-Chih and Greenberg, David and Clark, Tyson A and Kujawa, Steve

We have developed several candidate gene screening applications for both Neuromuscular and Neurological disorders. The power behind these applications comes from the use of long-read sequencing. It allows us to access previously unresolvable and even unsequencable genomic regions. SMRT Sequencing offers uniform coverage, a lack of sequence context bias, and very high accuracy. In addition, it is also possible to directly detect epigenetic signatures and characterize full-length gene transcripts through assembly-free isoform sequencing. In addition to calling the bases, SMRT Sequencing uses the kinetic information from each nucleotide to distinguish between modified and native bases.

Organization: PacBio
Year: 2016

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