updated in-silico scoring system for missense variants
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2.8 years ago
cocchi.e89 ▴ 280

I have to compare and score the impact of missense mutations on PKD1/2 genes in human subjects. I found some literature on the subject, but the publication it's 5 years old and they used a Grantham-based method from a 2006 publication on BRCA.

I know that thousands of other scores have been published since 2006 and I was wondering if somebody here has updated experience with comparison of in-silico pathogenicity prediction tools for missense variants. I know that this may sound as a not-to-do question, but I'd like to know if somebody here with real experience in the field can point to some updated best-tools for this specific task.

Thank you very much in advance for any help!

pathogenicity missense in-silico • 478 views

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