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Outlier Sample Removal in GenerateBatchMetrics and FilterBatchSites #44

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hab45 opened this issue Sep 8, 2020 · 0 comments · May be fixed by #717
Open

Outlier Sample Removal in GenerateBatchMetrics and FilterBatchSites #44

hab45 opened this issue Sep 8, 2020 · 0 comments · May be fixed by #717
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enhancement New feature or request

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@hab45
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hab45 commented Sep 8, 2020

We have found certainly outlier samples with significantly more variants can influence variant metrics (module 2) and subsequent filtering (module 3). The challenge here is that given some family based studies have more tolerance for inclusion of these sample we are suggesting allowing the option of filtering out outliers for training purposes in module 2 and 3 but including them in the subsequent downstream steps. This could work as follows: At the end of module 1 generate a list of outlier samples akin to that performed after module 3 though likely more stringent. Exclude the samples from generation of variant metrics in module 2 unless a variant is comprised of only outlier samples. In that case generate variant metrics as normal. Exclude variants comprised of only outlier samples for training purposes in module 3 but include them when using the random forest for assessment.

VJalili added a commit to VJalili/gatk-sv that referenced this issue Jan 26, 2023
@mwalker174 mwalker174 added enhancement New feature or request and removed high priority labels Jun 12, 2024
@mwalker174 mwalker174 changed the title Outlier Sample Removal in Module 2 and 3 Outlier Sample Removal in GenerateBatchMetrics and FilterBatchSites Jun 12, 2024
@kjaisingh kjaisingh assigned kjaisingh and unassigned VJalili and epiercehoffman Aug 26, 2024
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