Ask Omar

Scientific AI

Hi — I'm Ask Omar. Ask me anything about medicine, genetics, the human body, research, or science.

Try asking

Ask Omar can make mistakes. Verify important information.

August 31, 2026
Observation

Why a frameshift doesnt always mean pathogenic

Ask, could translation reinitiation occur, or could the transcript undergo NMD? Positioning of the variant? could alternative splicing rescue the transcript? IMPORTANT: check gnomAD pLoF observed/expected, LOEUF and pLI - to check if LoF variants exist in population data , which would potentially weaken the haploinsufficiency argument
← All entriesResearch notebook