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 …

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 …

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) …

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 …

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, …

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 …

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 …

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 …

Sano Genetics Exome Sequencing

In a previous post about Lumminary's Exome Sequencing I said I was going to get tested with Sano as well since I wasn't too happy with Lumminary. There was a bit of a delay in the last stage of the process that I suspect was caused by Covid but the results still came in about …

I might have myopathy

If you have read my previous post Unusually Tight Muscles then you will know that since I was 5 I have had persistent symptoms of tightness and weakness in my leg muscles. When I decided to get whole genome sequencing done last year, looking for a possible explanation for these symptoms was something I wanted to …