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Copy Number Variation analysis #24

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melconrad opened this issue Dec 3, 2021 · 0 comments
Open

Copy Number Variation analysis #24

melconrad opened this issue Dec 3, 2021 · 0 comments
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feature ✨ feature request or enhancement

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@melconrad
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Solution Requested

We would like to detect increased copy number for plasmepsin 1/2 (PM1/PM2), mdr1, gch1.

As a starting point, it seems appropriate to count UMIs from genes that we know have a single copy number, and then if the UMIs from our gene that we suspect has copy number variation, a 2 fold increase in UMIs in that gene would be called as having 2 (copies.

A more complex solution that uses Hardy Weinberg would be useful for future builds.

@melconrad melconrad added the feature ✨ feature request or enhancement label Dec 3, 2021
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