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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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How I Found Out About My Genetic Variants And The Tools That I Used to Understand Them

This is a blog post about how I found out about the variants in my genome and the tools that I used to help me understand them.  I got whole genome testing done.  I got my whole genome analyzed by Dante Labs and Sequencing which are companies that specialize in Next-generation Sequencing (NGS) which is a modern method of analyzing genetic material that allows for the rapid sequencing of large amount of DNA or RNA. My mother got her whole genome analyzed by Sequencing.  https://us.dantelabs.com/ https://www.youtube.com/@DanteLabs https://sequencing.com/ https://www.youtube.com/@sequencing I obtained Binary Alignment Map (BAM) file and Variant Call Format (VCF) file from both Dante Labs and Sequencing. https://en.wikipedia.org/wiki/Binary_Alignment_Map https://en.wikipedia.org/wiki/Variant_Call_Format https://www.youtube.com/watch?v=y4KqVfCdLo0 I used Integrative Genomics Viewer (IGV) for finding out variants and their chromosome location with the use of the BAM file and VCF file.  If us
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My Variants in Old Dyslexia-Linked Genes

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  This is a blog post about my variants in old Dyslexia-linked genes.    With my being a neurodivergent (having Dyslexia, Dyspraxia, ADHD) with Ataxia, I was very curious about genes associated with Dyslexia.  This concludes my Developmental Neurogenomics series of blog posts.  My Neurological Makeup includes both Neurodivergence and Ataxia https://neurodivergence.blogspot.com/2024/01/my-neurological-makeup-includes-both.html The DRD4 (Dopamine Receptor D4) Gene https://neurodivergence.blogspot.com/2024/01/the-drd4-dopamine-receptor-d4-gene.html My Potential Dyslexia Risk Factors Based On 2022 Published 'Discovery of 42 genome-wide significant loci associated with dyslexia' https://neurodivergence.blogspot.com/2024/02/my-potential-dyslexia-risk-factors.html My Potential ADHD Risk Factors based on 2022 Published 'Genome-wide analyses of ADHD identify 27 risk loci' https://neurodivergence.blogspot.com/2024/03/my-potential-adhd-risk-factors-based-on.html My Potential Comor
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