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Uncovering complexity

To identify the genetic drivers of neurological, neuromuscular, and neurodegenerative disorders scientists must have access to the complete genomic landscape, including regions previously deemed impossible to sequence, and the tools to examine the full range of genomic variation.

Discover deeper insights

The PacBio Systems using Single Molecule, Real-Time (SMRT) Sequencing provide exceptionally long reads, uniform coverage and high consensus accuracy. This technology enables scientists to gain a more comprehensive understanding of the genetic basis of neurological disease through:

Spotlight: CRISPR/Cas9 and SMRT Sequencing provide insights into Parkinson’s disease

Scientists used CRISPR/Cas9 in combination with long-read SMRT Sequencing to characterize complete repeat expansions and identify a novel phenotype-genotype correlation between Parkinson’s disease and the ATXN10 repeat expansion. Explore this research further.

Schüle, B. et al., 2017. Parkinson’s disease associated with pure ATXN10 repeat expansion. Parkinson’s Disease, 3(27).

Spotlight: Generating haplotype-specific variant calls in Alzheimer’s disease

Targeted sequencing of 35 candidate genes allowed scientists to detect a broad array of genomic variants in patients with Alzheimer’s disease. Using SMRT Sequencing they uncovered novel transcript isoforms, a novel exon and phased variants to specific alleles and subsequently transcript isoforms. Explore this research further:

Kujawa, S. et al., 2016. A method for the identification of variants in Alzheimer’s disease candidate genes and transcripts using hybridization capture combined with long-read sequencing. In 66th Annual Meeting of the American Society of Human Genetics. Vancouver, BC.

For more information about how SMRT Sequencing can advance your neuroscience research, contact us.

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