d3b-center / PBTA-ALT-analysis

Repository for CBTTC-ALT project with Kristina Cole
MIT License
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Proposed Analysis: assess N samples with specific gene mutations by ALT status #18

Closed jharenza closed 2 years ago

jharenza commented 2 years ago

What are the scientific goals of the analysis?

Question: Does the ALT phenotype co-occur with an enrichment in mutations in certain genes?

What methods do you plan to use to accomplish the scientific goals?

As in panel B below, assess number of patients (not samples) with mutations in the following genes (to reproduce pedcbio panel): TP53, ATRX, H3F3A, NF1, TTN, PPMD1, RYR1, BCOR, PIK3CA, CRK.

Screen Shot 2022-04-06 at 2 09 14 PM

I am assuming this gene list was not pre-defined and instead is a survey of all genes mutated, so it is possible after changing our sample list, and jenny redoes this in pedcbio, there might be a new gene list.

Update: use TP53, ATRX, H3F3A, NF1 only.

Another thought I had is to run mutational co-occurrence using HGAT ALT+ and HGAT ALT- as two separate histologies. This asks a different question, though - are there any differences in the co-occurring or mutually exclusive genes across these two groups? This can probably be run here quickly (using OpenPBTA methods).

What input data are required for this analysis?

https://github.com/d3b-center/Cole-telomere-analysis/blob/f655ac13e4d383de4cba18dd3365b14b767b0d04/analyses/oncoplot/plot_oncoplot.R#L19

meta file

How long do you expect is needed to complete the analysis? Will it be a multi-step analysis?

by april 15?

Who will complete the analysis (please add a GitHub handle here if relevant)?

@runjin326

What relevant scientific literature relates to this analysis?

jharenza commented 2 years ago

done in #23