Katherine Dixon - Characterising structural variants in rare disease
Rare diseases collectively affect millions worldwide; although the majority are suspected to be genetic in origin, the molecular basis of many rare diseases is unknown. Katherine Dixon (Canada's Michael Smith Genome Sciences Centre, Canada) performed whole genome nanopore sequencing to detect pathogenic structural variants (SVs). In addition to successful gene discovery in multiple clinical research samples from patients with no prior diagnosis of rare or inheritable disease, nanopore sequencing allowed for the characterisation of variants that could not be wholly resolved using other methods. This rare disease research marks a turning point, driven by long nanopore sequencing reads, in germline SV detection at unprecedented resolution and sensitivity.
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