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:
Could this be a limitation in the current genotyping model?
Thanks!
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:
Could this be a limitation in the current genotyping model?
Thanks!