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monarch-initiative / HpoCaseAnnotator

Next-generation Biocuration App for annotating cases and PhenoPackets
https://hpocaseannotator.readthedocs.io/en/latest/index.html
BSD 3-Clause "New" or "Revised" License
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Allow storing variant mosaicism #112

Open ielis opened 1 year ago

ielis commented 1 year ago

The paper Bar et al. 2017 describes a proband with HGPS caused by a mosaic mutation and the mosaicism is the key point of the paper. We need to implement storing mosaicism metadata.

pnrobinson commented 1 year ago

It would be great to implement all of the datafields we had for the original HCA (mechanisms, validations) etc and to store the results as Extension objects in vrsatile. Mosaicism can be stored as a float but we need to make sure that we know what tissue (sample) is being refered to?