Observation
Observation
What variants are we missing when you only focus on a specific phenotype?
Research Notebook
Lab Notebook
Notes from the work in progress — observations, questions, ideas, experiments, and discoveries along the way.
Field notes
3 entries
Desk notes
Ideas & observations
Research log
Aug 31
2026
#001
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 gnomA…
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Aug 21
2026
#002
Franklin Genoox
Just as a Tip, uploading your VCF files into https://franklin.genoox.com/ Allows you to view the variants in a cleaner and easier way, especially if you have trio WES You can compa…
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Aug 21
2026
#003
001 - Purpose
Not everything I learn belongs in a paper. This notebook is a place for questions and thoughts I come up with while working with data and interesting variants. Learning things I do…
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Omar Abousaad · Research NotesKeep asking why.