GATK-gCNV on Exome Data #90
Faizal-Eeman
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Replies: 2 comments
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Yup, worth creating an issue and we’ll get to this eventually!
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Issue #91 |
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@pboutros @tyamaguchi-ucla @yashpatel6
https://www.nature.com/articles/s41588-023-01449-0
GATK has a gCNV algo to call common and rare germline variants. Also supports exome data!
We can consider applying this in the gSV pipeline which already uses DELLY CNV calling. Maybe not on the immediate plan but something to consider in the future, because this seems to require a set of control samples to build a model.
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