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adding further pseudocode
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Letitia Mueller committed Oct 1, 2020
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##Sept 30, 2020
## Pseudocode for analysis


Using file of unique germline variants in a given tissue cohort:

Run variants through OpenCravat to get Revel score, establish cut offs from paper (for missense variants)

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@melissacline

melissacline Oct 1, 2020

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Good news, if we're using BayesDel, we don't also need Revel. But we do need the known variant interpretations from ClinVar. Please update accordingly.

Run variants through BayesDel (Bing Feng, Utah, for indel variants)
Identify variants that result in a loss of function mutation (using cut offs for Revel, tbd for BayesDel)

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@melissacline

melissacline Oct 1, 2020

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We can use a cutoff of 0.3 for BayesDel, and assume any score > 0.3 predicts loss of function.


Using file with data per individual, per variant:

For each gene, identify the individuals who have LOF mutations

Using file of somatic variants in a given tissue cohort:

For each gene, match individuals (sample IDs) to view both germline data and somatic data in one file
Identify individuals who have both LOF germline mutation and somatic variant with gistic score of either -1 or -2
Add these individuals to a two hit group (either list or separate file)
Identify individusals who have either LOF germline mutation or somatic variant with gistic score of eitehr -1 or -2
Add these individuals to an at least one hit group (either list or separate file)
Identify individuals who are not in either two hit or one hit group

Using somatic mutational score data:
Compare somatic mutational scores in individuals with two hits, one hit, and no hits.

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