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Phasing using Gnomad data #575

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damiansm opened this issue Oct 7, 2024 · 0 comments
Open

Phasing using Gnomad data #575

damiansm opened this issue Oct 7, 2024 · 0 comments

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@damiansm
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damiansm commented Oct 7, 2024

If two variants are in GnomAD (~50%) then download from Gnomad will score on whether in trans and fitting a cmphet model. Ptrans (v1,v2) (> 0.55 in trans, < 0.1 in cis). Test if improves Exomiser

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