Posts

Showing posts from 2023

My Indicators for Left-handedness and Ambidexterity Based on GWAS study that identifies 48 common genetic variants associated with handedness.

Image
 I was reading a 2020  Genome-wide association study that identifies 48 common genetic variants associated with handedness. Abstract Handedness has been extensively studied because of its relationship with language and the over-representation of left-handers in some neurodevelopmental disorders. Using data from the UK Biobank, 23andMe and the International Handedness Consortium, we conducted a genome-wide association meta-analysis of handedness ( N  = 1,766,671). We found 41 loci associated ( P  < 5 × 10 –8 ) with left-handedness and 7 associated with ambidexterity. Tissue-enrichment analysis implicated the CNS in the aetiology of handedness. Pathways including regulation of microtubules and brain morphology were also highlighted. We found suggestive positive genetic correlations between left-handedness and neuropsychiatric traits, including schizophrenia and bipolar disorder. Furthermore, the genetic correlation between left-handedness and ambidexterity is low ( r   G  = 0.26), whi

My Rare Loss of Function Variants: Part 2 - Insertion-Deletions (Indels)

Image
  Insertion-Deletions (Indels) Indel  ( in sertion- del etion) is a molecular biology term for an  insertion  or  deletion  of  bases  in the  genome  of an organism. Indels ≥ 50 bases in length are classified as  structural variants . [1] [2] In  coding regions  of the genome, unless the length of an indel is a multiple of 3, it will produce a  frameshift mutation . For example, a common microindel which results in a frameshift causes  Bloom syndrome  in the Jewish or Japanese population. [3]  Indels can be contrasted with a  point mutation . An indel inserts or deletes nucleotides from a sequence, while a point mutation is a form of substitution that  replaces  one of the  nucleotides  without changing the overall number in the DNA. Indels can also be contrasted with Tandem Base Mutations (TBM), which may result from fundamentally different mechanisms. [4]  A TBM is defined as a substitution at adjacent nucleotides (primarily substitutions at two adjacent nucleotides, but substitutio

My Rare Loss of Function Variants: Part 1 - Single Nucleotide Variants (SNV's)

Image
This is a 2 Part Neurodivergence Blog Post on my rare Loss of Function Variants which have high impact. The link to part 2 is at the end of the Part 1 post. This will give good insight into the genetic makeup of a neurodivergent.  In my case, I am a neurodivergent with Dyslexia, Dyspraxia, ADHD.  I was in special education in my early years. I had auditory therapy, speech therapy, phonics training, and motor skills therapy to correct my Dyslexic and Dyspraxic weaknesses. I have never been treated for ADHD.  My Neurodivergence Testing https://neurodivergence.blogspot.com/2021/01/my-neurodivergence-testing.html The Connection Between My Overexcitabilities and Neurodivergent Conditions https://neurodivergence.blogspot.com/2021/01/the-connection-between-my.html My Life As A Neurodivergent  https://neurodivergence.blogspot.com/2023/11/my-life-as-neurodivergent .html Parental Questionnaire That My Mother Did In Regards To My Neurodivergence https://neurodivergence.blogspot.com/2022/06/parent