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miscounting repeat number #184

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nbedelman opened this issue Dec 1, 2023 · 0 comments
Open

miscounting repeat number #184

nbedelman opened this issue Dec 1, 2023 · 0 comments

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@nbedelman
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Hello,
I am looking at a repeat locus that has two repetitive elements neighboring one another. My test pattern is "(TG)+(T)+", as there is a variable run of TG followed by a variable run of T. ExpansionHunter runs quickly, but generates output which differs from what can be seen through the GraphAlignmentViewer. Specifically, the EH output has exactly one extra repeat element for all alleles. Is this a known issue, and if so is there a workaround? EH input variant catalog, output json, and output GraphAlignmentViewer attached.
7-117188682-T alignment
7-117188655-TG alignment
test_output_MGL2.json
test_variant.json

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