Editing AI for Genomic Medicine (section)

== <span style="color: #FFFFFF;">Remembering</span> ==
* '''Clinical genomics''' — The application of genomic testing and analysis to patient care for diagnosis, treatment, and prevention.
* '''Rare disease diagnosis''' — Using whole-exome or genome sequencing to identify causative variants in patients with undiagnosed conditions.
* '''Variant of uncertain significance (VUS)''' — A genetic variant with unknown clinical impact; reclassification from VUS to pathogenic/benign is a major AI opportunity.
* '''Pathogenicity classification''' — Determining whether a genetic variant causes disease; ClinVar, ACMG criteria, ML predictors.
* '''Pharmacogenomics''' — The study of how genetic variation affects drug response; informs medication selection and dosing.
* '''Precision oncology''' — Selecting cancer treatments based on the molecular profile of a patient's tumor.
* '''Tumor mutational burden (TMB)''' — The number of somatic mutations per megabase in a tumor; predicts immunotherapy response.
* '''Microsatellite instability (MSI)''' — A pattern of somatic mutations indicating mismatch repair deficiency; predicts response to checkpoint inhibitors.
* '''Liquid biopsy''' — Detecting tumor DNA fragments in blood (ctDNA); enables non-invasive tumor profiling and early cancer detection.
* '''ACMG variant classification criteria''' — The American College of Medical Genetics 5-tier system (pathogenic to benign); ML automates application.
* '''Deep mutational scanning (DMS)''' — Experimentally measuring the effect of thousands of variants; gold-standard data for training variant effect predictors.
* '''AlphaMissense''' — DeepMind's model predicting pathogenicity of all possible single-amino-acid protein variants.
* '''Multi-omics integration''' — Combining genomic, transcriptomic, proteomic, and clinical data for comprehensive patient profiling.
* '''GRAIL / Galleri''' — A multi-cancer early detection blood test using ML on ctDNA methylation patterns.
</div>

<div style="background-color: #006400; color: #FFFFFF; padding: 20px; border-radius: 8px; margin-bottom: 15px;">