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traxexx avatar traxexx commented on July 19, 2024

Hi Zhiliang,

In real practice Paragraph treats duplications as insertions. With such treatment, the similarity between duplications can significant lower the genotyping performance. And for large DUPs (the one at 1:2388494), the best genotyping method should be read depth counting, but it's not in Paragraph current version yet. Let me check if there is any other good solutions for this case.

from paragraph.

traxexx avatar traxexx commented on July 19, 2024

For now maybe try GenomeStrip for CNVs? It should work for both discovery and genotyping mode:
http://software.broadinstitute.org/software/genomestrip/
It will work better if you have a bunch of samples running together.

from paragraph.

Zhiliang-Zhang avatar Zhiliang-Zhang commented on July 19, 2024

For now maybe try GenomeStrip for CNVs? It should work for both discovery and genotyping mode:
http://software.broadinstitute.org/software/genomestrip/
It will work better if you have a bunch of samples running together.

Hi,
Thanks for your reply and advice. That sounds great and I will have a try.

Zhiliang

from paragraph.

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