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Published 20 hours ago • verified publisher icon phenopackets

Parental consanguinity

Open pnrobinson opened this issue 2 years ago • 0 comments

A question is if there is a best practice for representing knowledge about parental consanguinity in phenopackets. In principle this could be infered from the pedigree or later the GA4GH pedigree model. In practical use, sometimes it is enough to know that parental consanguinity of some form exists to focus on the analysis on recessive disorders and do runs of homozygosity analysis etc.

Currently, there is no HPO term for this, but it could be added somewhere near here: https://hpo.jax.org/app/browse/term/HP:0032443 However, where would be "put" this in a phenopacket?

Any thoughts @julesjacobsen @floherzler @buske

pnrobinson avatar Dec 22 '21 16:12 pnrobinson