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Implementation of disease mutation class #26

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gsheynkman opened this issue Jul 20, 2021 · 1 comment
Open

Implementation of disease mutation class #26

gsheynkman opened this issue Jul 20, 2021 · 1 comment
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design high-level design ideas, brainstorming enhancement New feature or request postponed This should be handled in the future, but is low priority right now

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@gsheynkman
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Need a class that represents disease mutations (genetic variants, mendelian disease mutations, complex disease variants, cancer autosomal and somatic variants) that are mapped to Position and Residue objects.

Placeholder for module -> isomodules/isomut.py

Code that could be used as a start -> isomodules_in_progress/mutation*.py

@gsheynkman gsheynkman added design high-level design ideas, brainstorming enhancement New feature or request labels Jul 20, 2021
@gsheynkman
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Download and curate genetic variants from population databases (gnomad, exac), cancer databases (tcga, cosmic), complex disease (gwas), and mendelian disease (hgmd, clinvar)

Map to the transcripts and proteins

Lollipop plot for visualization - can see relationship between position of disease mutations and isoform and protein features.

@jsaquing jsaquing added the postponed This should be handled in the future, but is low priority right now label Aug 25, 2021
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Labels
design high-level design ideas, brainstorming enhancement New feature or request postponed This should be handled in the future, but is low priority right now
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