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monarch-initiative / genophenocorr

Genotype Phenotype Correlation
https://monarch-initiative.github.io/genophenocorr/stable
MIT License
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Adding new MTC filter that allows the user to specific which term(s) … #177

Closed pnrobinson closed 2 days ago

pnrobinson commented 5 days ago

…they want to test. Only these terms are tested. Also added new unit test in test_mtc_filter.py

pnrobinson commented 5 days ago

I also tested this assertion (https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8948816/ "The frequency of global developmental delays and intellectual disability/learning difficulties in patients with truncated ANKRD11 gene variation was higher than that in patients with missense variation in the ANKRD11 gene (p < 0.05).", made on only 13 patients) by testing only two terms in the KBG notebook. There was no significance, and so I think we can say that we have fairly ruled this out.

pnrobinson commented 5 days ago

@ielis thanks! I will merge