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Gene Inspector Pro And The Variants That I Found In Connection To My Atypical Neurological Processing

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This is a blog post about Gene Inspector Pro and the variants that I found in connection to my atypical neurological processing.  Sergey Andryukhin's Gene Inspector Pro's information "This tool allows you to explore various aspects of your genetic profile by clicking on panels representing different metabolic pathways and genetic disorders. Each panel provides a list of genes and their mutations, offering technical information that may be most useful to doctors and geneticists. Please note that this tool does not offer personalized health advice. If you have concerns about your genetic profile or health, consult with a qualified healthcare provider." "It finds compromised genes.  Its automatic scan leads to discovery of variants with highest probability of impact. It checks metabolic pathways.  They include Vitamins, minerals, methylation, autophagy, Energy, Krebs cycle and many more. Genetic variants are sorted, grouped and annotated so that you can see which ar
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Investigation Of Ultra-Rare De Novo Attention Deficit Hyperactivity Disorder (ADHD) Single Nucleotide Variants

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  I investigated the 17 single nucleotide variants that are some of the ultra-rare de novo variants that are found in children with Attention Deficit Hyperactivity Disorder (ADHD) according to July 2024 published 'Rare de novo damaging DNA variants are enriched in attention-deficit/hyperactivity disorder and implicate risk genes'. https://www.nature.com/articles/s41467-024-50247-7 5 are novel. 9 are Stop Gained aka Nonsense which are high impact variants in exons that can lead to loss function. Eight are Missense that are medium impact variants in exon, but one of them involves a Splice Donor that is a high impact varant in an intron that effects splicing (it is with one of the Missense variants).   I used Varsome to get the In-Silico Predictions and HGVS information. I used Ensembl's Variant Effect Predictor (VEP) to get information about the Combined Annotation Dependent Depletion (CADD) scores. I used the HGVS information at ClinGen Allele Registry to get rsID, ClinVar i
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