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phenopackets / phenopacket-format

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Make phenopacket examples for model organism #35

Open mellybelly opened 8 years ago

mellybelly commented 8 years ago

For fly, maybe @dosumis can help. a potential fly article:

Differential Masking of Natural Genetic Variation by miR-9a in Drosophila. Justin J. Cassidy, Alexander J. Straughan, Richard W. Carthew. GENETICS February 11, 2016 vol. 202 no. 2 675-687; DOI: 10.1534/genetics.115.183822

I'm thinking of doing one of these for zebrafish:

A Novel Ribosomopathy Caused by Dysfunction of RPL10 Disrupts Neurodevelopment and Causes X-Linked Microcephaly in Humans Susan S. Brooks, Alissa L. Wall, Christelle Golzio, David W. Reid, Amalia Kondyles, Jason R. Willer, Christina Botti, Christopher V. Nicchitta, Nicholas Katsanis, Erica E. Davis GENETICS October 14, 2014 vol. 198 no. 2 723-733; DOI: 10.1534/genetics.114.168211

I especially like this one as it has both human and zebrafish.

another option: snow white, a Zebrafish Model of Hermansky-Pudlak Syndrome Type 5 Christina M. S. Daly, Jason Willer, Ronald Gregg, Jeffrey M. Gross GENETICS October 2, 2013 vol. 195 no. 2 481-494; DOI: 10.1534/genetics.113.154898

cmungall commented 8 years ago

Note that we can also just export from monarch

julesjacobsen commented 8 years ago

Also worth using IMPC as they have quantified data. Does Monarch ingest this too?