More Autism Genetic Variants

In my previous post Some of My Autism Related Genetic Variants, I gave a list of potential autism related variants that I found in my genome sequencing results. In that analysis I focused on coding variants. These are variants that directly change the sequence of nucleotides that encode the protein. However there are many other variants …

Some of My Autism Related Genetic Variants

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 …

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 …

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 …

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 …

Dante Labs Whole Genome Sequencing

In November 2019 I finally got my results from Dante Labs after waiting since February 2019. I was a little concerned this length of time meant my sample was just sitting for too long and may have degraded a bit. However the results seem to match up reasonably well with my 23andme data so I …