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Heterozygous expansions detected as homozygous #18

@li1ba

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@li1ba

Hi!

Thanks for developing such a great tool!

We've observed across multiple samples that clearly heterozygous repeat expansions are detected as homozygous.

Here's an example for PABPN1 locus:

Image

Could this be a limitation in the current genotyping model?

Thanks!

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