@j-c-butts.bsky.social on Bluesky

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John Butts

j-c-butts.bsky.social

did:plc:quxkha7gofd3bxecuz7744cd

Many clinically identified non-coding variants lack clear effects, using MPAC we can predict the impact of all ClinVar non-coding variants and observe enrichments in pathogenic alleles for highly disruptive variants (emVars).

2025-04-23T17:28:55.752Z