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RERE -- case #147

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pnrobinson opened this issue Apr 20, 2024 · 1 comment
Open

RERE -- case #147

pnrobinson opened this issue Apr 20, 2024 · 1 comment
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@pnrobinson
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Fregeau et al. (2016) suggested that point mutations in the Atrophin1 domain might be associated with a more severe clinical presentation. Our study provides additional evidence in support of this
genotype–phenotype correlation.

Use this as a case study. Figure out how to specify the Atrophin1 domain using our API.

@pnrobinson pnrobinson added the story An issue with a high-level user story label Apr 20, 2024
@pnrobinson
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@lnrekerle
Could you take a look at this notebook
https://github.com/monarch-initiative/gpc-cs/blob/main/notebooks/RERE/RERE_gpc.ipynb
The introduction there tells what the location of the Atrophin 1 domain is. Please add a predicate to do the text mentioned above. Also please update the notebook to use the phenopacket store tools to import the cohort.

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