Hi @researchcommunity !!! I was wondering if anyone could give me some advice.
I’ve been running ExpansionHunter on a cohort of patients with Parkinsonian features to screen for repeat expansions that might be flying under the radar. The tool seems promising, but I’ve hit a roadblock: the output JSON files are massive — too large to open in most online viewers or tools. I haven’t found an efficient way to parse or explore the results systematically.
Has anyone dealt with this?
• Any tips on how to handle or summarize large ExpansionHunter outputs?
• Are there any tools or scripts you’ve found useful?
This effort was motivated by two interesting clinical cases that came up in our work:
1. In our Parkinsonism cohort, we identified a patient with a typical Parkinson’s disease phenotype who turned out to carry a SCA3 expansion — an unusual but important finding.
2. In our ataxia cohort, which we sequenced using long-read technology, we found SCA4 in a Chilean patient with rapidly progressive Parkinsonism and spastic ataxia. To our knowledge, this phenotype hasn’t been reported before in SCA4, and similar cases have only been described in Northern Europe.
Would love to hear from others working on repeat expansions in atypical Parkinsonism or who have experience with ExpansionHunter!
