Mahi-mahi: detect repeat expansions without repeat experiments
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Repeat expansions are associated with over 50 rare diseases. Accurate characterisation of repeat expansions is paramount in the development of potential new methods to support diagnosis, prognosis, and effective management of these disorders.
In this flyer, discover Mahi-mahi: an analysis tool powered by Oxford Nanopore reads that captures and phases repeat expansion lengths, motifs, sequence interruptions, and methylation in a single assay. With Mahi-mahi and our end-to-end human variation workflow, access the resolution you need to further your rare disease research.
