@AlexKarollus @LXandR_ 7/ Building on these, BigRNA refines predictive capabilities for expression-altering mutations. Note: To do this evaluation they had to do a lot of legwork to identify a set of expression altering variants which they did in a separat
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5/16 Following on our recent work on curating disease variants in untranslated regions, we found that modeling changes in RNA-seq offers a powerful way to distinguish these variants from benign ones in general https://t.co/1CtJoyfhhx
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RT @deepgenomics: Our work ‘A curated census of pathogenic and likely pathogenic UTR variants and evaluation of deep learning models for va…
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RT @deepgenomics: Our work ‘A curated census of pathogenic and likely pathogenic UTR variants and evaluation of deep learning models for va…