[jhaddow]

How would one find out if they have this type of hearing loss? I have moderate to severe hearing loss in both ears since birth and there’s never been an attempt that I’m aware of to diagnose the cause beyond a standard inner ear examination.

[codytruscott]

Whole Genome Sequencing is affordable now. I’d suggest a 20x hifi long read from broad clinical labs for $1200 or so. Use opencravet to dig into the results. They just posted a webinar for personal analysis https://wse.zoom.us/webinar/register/WN_-VvYJ8FKRcGaKCQtLFrU...

Franklin by genoox is a slicker and possibly more approachable product depending on your interface preferences.

Genetic research — due to the number and subtly of variants — is ripe for citizen science in my opinion.

[gavinray]

As a follow-on to this:

If you have partial genome data from 23andMe, Ancestry, etc, you can use what's called "genomic imputation" to do a sort of probabilistic gap-filling in your genome.

It's a bit tricky to do yourself, but there are paid services that will run the imputation for you and share the results.

I paid $15 for mine at https://dnagenics.com

---

@codytruscott I signed up for that webinar, I hadn't heard of this tool before, thanks!

Got any other useful links/tools to share by chance?

[codytruscott]

Rather than 23andMe, Ancestry ($50-$100) etc => imputation, broad clinical labs offers exome + genome blended for $120.

https://usegalaxy.org is pretty remarkable and provides access to a ton of open source bioinformatics tools + compute to process the files.

I really think the $1200 20x pacbio from broad is worth it if you are going to make it serious hobby.

[beaugunderson]

the site i maintain is a bit out of date, but i accept PRs if you have time to add the broad clinical labs data!

https://whichgenome.com/

[edwardog]

Thank you for this! My wife recently got a pathology report back reporting a rare variant of a rare cancer and I’m trying to get back into genomics (an almost masters degree) now to see if there’s anything my computering can do to aid. I’ve contacted Broad Clinical Labs.

[2dvisio]

In the UK, Newborn hearing screening (https://www.nhs.uk/baby/newborn-screening/hearing-test/) is a mandatory test that happens in the first weeks of life.

Genomics-driven diagnosis of several (treatable) conditions is not science fiction anymore, but requires support from governments and national health systems. The technology is there, and can be scaled up.

With studies like this: https://www.genomicsengland.co.uk/initiatives/newborns

and initiatives like this: https://www.bbc.co.uk/news/articles/c1ljg7v0vmpo#:~:text=Eve...

[apt-apt-apt-apt]

Asking your ear doctor seems like a good idea for this, rather than random people on HN..

[jhaddow]

Do you want to be my ENT?