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exomiser / Exomiser

A Tool to Annotate and Prioritize Exome Variants
https://exomiser.readthedocs.io
GNU Affero General Public License v3.0
190 stars 54 forks source link

integrate alphamissense #520

Closed cmungall closed 5 months ago

cmungall commented 9 months ago

https://github.com/deepmind/alphamissense

https://www.science.org/doi/10.1126/science.adg7492

damiansm commented 9 months ago

Done already ;-) Or in progress at least

Bioinf-usr commented 9 months ago

Hi,

This is great, look forward to working with alphamissense :) On a similar note is there a possibility to include our own pathogenicity scores instead of the existing ones such as REVEL, MVP etc.,?

Thank you.

julesjacobsen commented 8 months ago

Also worth looking at Genome-wide prediction of disease variant effects with a deep protein language model

Bioinf-usr commented 8 months ago

Also worth looking at Genome-wide prediction of disease variant effects with a deep protein language model

Indeed it is also very interesting. Would be great to provide an option to incorporate such novel scoring mechanisms.

julesjacobsen commented 5 months ago

Will be present in 2402 data release