Using Cas9 and whole-genome sequencing to identify neurodegenerative repeat expansion disorders
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Nanopore sequencing with the bioinformatics pipeline wf-human-variation from EPI2METM Labs allows the detection and annotation of large repeat expansions in several genetic diseases
Download the poster to discover:
- How repeat expansions are associated with a diverse group of rare neurological conditions
- How Cas9 can be used to target expanded repeat loci, enabling native DNA sequencing
- The roles played by repeat interruptions and DNA modifications in disease phenotype
- How repeat expansion disorders can be studied using whole-genome sequencing