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Letitia Mueller
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##Sept 30, 2020 | ||
## Pseudocode for analysis | ||
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Using file of unique germline variants in a given tissue cohort: | ||
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Run variants through OpenCravat to get Revel score, establish cut offs from paper (for missense variants) | ||
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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
Contributor
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Using file with data per individual, per variant: | ||
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For each gene, identify the individuals who have LOF mutations | ||
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Using file of somatic variants in a given tissue cohort: | ||
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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 | ||
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Using somatic mutational score data: | ||
Compare somatic mutational scores in individuals with two hits, one hit, and no hits. | ||
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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.