My Rare Frameshift Variants That Escape Nonsense-Mediated Decay
This is a blog post about my rare Frameshift variants. I focused only things only pertaining to the nervous system because of my interest in Developmental Neurogenomics as a neurodivergent with Dyslexia, Dyspraxia, ADHD. I also have Ataxia which is a rare neurological condition that involves coordination problems like Dyspraxia does. I used my Sequencing data I used the Genome Aggregation Database (gnomAD) to check the allele frequencies, disease allele frequencies, and Combined Annotation Dependent Depletion (Scores). I consider only those with CADD scores of at least 20. I used Ensembl's Variant Effect Predictor to see if they're predicted to escape Nonsense-Mediated Decay (NMD). One-third of all inherited human diseases are caused by nonsense or frameshift mutations that introduce a premature stop codon in a transcript. Nonsense-mediated RNA decay (NMD) is an evolutionarily conserved RNA quality control process that serves both as a mechanism to el...