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sheynkman-lab / biosurfer

"Surf" the biological network, from genome to transcriptome to proteome and back to gain insights into human disease biology.
MIT License
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Implementation of disease mutation class #26

Open gsheynkman opened 2 years ago

gsheynkman commented 2 years ago

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 commented 2 years ago

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.