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Usage of alphamissense #552
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@Bioinf-usr I'm not part of this dev team, though I am a user and I've spoken with some senior people here. I'm paraphrasing, so feel free to ignore or take this with a pinch of salt:
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Thanks for commenting @MattWellie, this is correct. The actual required input for specifying AlphaMissense is: |
Thanks a lot @MattWellie @julesjacobsen. That was helpful. Would try to get some benchmarks internally as well. |
SpliceAI are now included in #562. Note we've also updated our recommendations to include ALPHA_MISSENSE along with REVEL and MVP. |
Hi,
Should we use alphamissense in combination with any of the other existing score or should it be used as standalone. In one of the documents it was mentioned to use either (POLYPHEN, MUTATION_TASTER, SIFT) or (REVEL, MVP). I have similar questions for CADD, REMM and spliceAI as well. So, just wondering what is the best approach here. Also, if there are any benchmarks available that would be great.
Thank you.
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