It's been over three years now since I got the results of the first genome sequencing test I did. Since then I've explored lots of different ways of viewing and analysing my data. Looking for rare variants in Autism related genes was one thing I particularly wanted to do with this data. One of the … Continue reading Some of My Autism Related Genetic Variants
A New Blog
Just a short update post. I haven't written as much on this blog in the last year as I did previously. That's because I started a new blog. If you've been reading my posts then you'll know I have a bit of an interest in genetics. Over the last few years I've learned and discovered … Continue reading A New Blog
Do You Wear Glasses?
I wear glasses, occasionally. I have a mild degree of both Long-sightedness and Exophoria which is what my glasses are for. Most of the time though these two things don't cause any symptoms, I suppose usually my eyes are able to compensate. But, I also have a lacrimal system anomaly which can cause dry eye … Continue reading Do You Wear Glasses?
Revisiting De Novo Variants
I wrote a post on Discovering De Novo Variants some time ago. Since then I've realised there was significant flaw in what I was doing. The VCF files that companies provide are filtered. Sometimes when sequencing, only a small proportion of the reads suggest the alternate base or the quality of the reads is too … Continue reading Revisiting De Novo Variants
ICD-11 and Autism
A while back, over three years ago, I wrote a post on the ICD-11 Diagnostic Guidelines. It's proven quite popular, particularly lately. At least amongst users not using Google. Curiously I've gotten lots of referrals from the other other search engines for this page but none from Google. On January 1st of this year (2022) … Continue reading ICD-11 and Autism
One Person
So, there's this phrase. I'm sure you've seen it. "If you've met one person with Autism, you've met one person with Autism." I hate this phrase. It is ridiculous and has no meaning. Obviously every person with Autism is a unique individual with their pattern of traits, symptoms, strengths and weaknesses. But if a label … Continue reading One Person
The Controversy of Spectrum10K
I have been registered with the Autism Research Centre for several years now and 4 months ago I got an email about a new project that was looking for participants, Spectrum10K. The email immediately grabbed my attention with the statement, "explore genetic and environmental factors that contribute to the development of autism". I thought great, … Continue reading The Controversy of Spectrum10K
A Possible Mosaic ARID1A Mutation
When I did my first genome sequence, Dante's standard 30x product, I found an interesting variant in the ARID1A gene. The variant I found is novel and predicted to be pathogenic by most of the algorithms. Pathogenic mutations in ARIAD1A cause Coffin Siris Syndrome, rare developmental disorder. This condition is associated with Autism and has … Continue reading A Possible Mosaic ARID1A Mutation
An Inherited KBTBD13 Variant
This post follows on from two previous posts; Unusually Tight Muscles and I might have myopathy. I suggest you read those first if you haven't already. In the second of those posts I discussed a variant I found in the KBTBD13 gene that could be a potential cause of my muscle symptoms. Since then I have … Continue reading An Inherited KBTBD13 Variant
Discovering De Novo Variants
It's been ages since my last post. I got sucked into the world of Harry Potter fan fiction and since I was on furlough I didn't have much to draw my attention away from it. It definitely became a perseverative activity that wasn't terribly functional. However I am now back at work and this has … Continue reading Discovering De Novo Variants
subtly autistic 