Enrichment of hard-to-amplify genomic regions like repeat expansions is now possible with our amplification-free targeted sequencing method utilizing the CRISPR/Cas9 system.
Unraveling repeat expansion disorders
Many of the disease-causative genes for repeat expansion disorders were mapped decades ago; however, the underlying disease mechanisms are still not fully understood. These expansions can be several kilobases in size which makes them inaccessible with base level resolution to most technologies. Now, by combining amplification-free targeted enrichment using CRISPR/Cas9 system with long-read SMRT Sequencing, scientists can:
- Eliminate PCR bias and errors
- Sequence through entire repeat expansions with base-level resolution
- Quantify repeat numbers in normal- and mutant-expanded alleles
- Identify interruption sequences
- Characterize somatic mosaicism
Workflow: from DNA to base-level characterization of repeat expansions
|SMRT Sequencing with Sequel System
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Spotlight: Amplification-free targeted sequencing advances Ataxia research
Scientists are exploring the genetic composition of complete repeat expansions to uncover novel phenotype-genotype correlations between Parkinson’s disease and the gene ATXN10. Explore this research further.
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- Poster: Ekholm, J. et al. (2017) Screening for causative structural variants in neurological disorders using long-read sequencing
- Poster: Clark, T. A. et al. (2017) Targeted SMRT Sequencing of difficult regions of the genome using a Cas9, non-amplification based method
- Poster: Ekholm, J. et al. (2016) Enrichment of unamplified DNA and long-read SMRT Sequencing to unlock repeat expansion disorders
- Poster: Ekholm, Jenny et al. (2016) Candidate gene screening using long-read sequencing
- Poster: Ekholm, Jenny et al. (2016) Enrichment of unamplified DNA and long-read SMRT Sequencing in unlocking the underlying biological disease mechanisms of repeat expansion disorders