$100 Full Genome Sequencing

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J11
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$100 Full Genome Sequencing

Post by J11 »

The future has arrived!

What once cost over $1 billion and took a decade to complete can now be purchased online for ~$300 with results in a few weeks (or less). The human genome is unlocking or more specifically the personal genome is unlocking. This is an overwhelmingly profound moment in the history of human civilization. We will be able to peer into who we are at molecular resolution. We will be able to know our future and even more importantly take this knowledge and engineer our future. It is a transcendent moment.

Anyone else interested in entering the 22nd century? There are quite a number of questions that it would be best to ask before 9not after) going full genome; that is the mission of this thread! After being an early adopter for gene chips and exome sequencing, I want to be a somewhat smarter consumer and receive better value for my purchase. The $1,000 that I spent on both the gene chip and exome file was slightly extravagant. Funnily enough now that I am so wise I am humming and hawing about spending a few hundred dollars on what until even recently cost millions.

This thread will help work everything through so that we can access this breakthrough technology without buyers regret. There are some initial basic questions to work through. For example:

1. Is the genetic testing anonymous?
2. Are customers locked into a plan?
3. Are the genetic files properly formatted with rs numbers and perhaps clinvar annotations?
4. Do PGS exist for various illnesses (e.g. AD) that are readily accessible and reasonably affordable?
...

The companies of interest here are Nebula, Veritas, Dante, BGI and probably others.
Often highly competitive prices are offered around Thanksgiving, so there might not be that much
time to kick the tires.


We can all learn from each and make wise purchases. Anyone who has first hand knowledge
of full genome sequencing is encouraged to post their experience to the thread.

I am excited to move ahead on this and I hope others will join in on this exciting journey.
circular
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Re: $100 Full Genome Sequencing

Post by circular »

Hi J11. I’m also interested at the $100 price point. I wish I could help kick the tires but I’m swamped from 4+ years of nonstop caregiving (handling cases 2 and 3 now) and my personal affairs and psyche are completely down the drain for it. Hopefully I’ll find some more info here when I can turn my attention to it in earnest.
ApoE 3/4 > Thanks in advance for any responses made to my posts.
aiden
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Re: $100 Full Genome Sequencing

Post by aiden »

Hi J11 - Do we have any idea yet how whole genome testing could benefit our risk group? Are there aids to help us decipher the kind of data this type of test makes available? Are there any near-term benefits you see here?
I'm interested - just wanting to better understand the value.

Aiden
J11
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Re: $100 Full Genome Sequencing

Post by J11 »

aiden, sorry for not responding to you earlier. I have been obsessively posting to the aducan thread.

As an update I have finally got around to purchasing the Nebula 30x full genome sequence!
I am extremely excited about this!
20 years ago this would have cost ~$1 billion.
And now I, J11, will soon have my own full genome; it is almost too much to believe.

One problem that I encountered, though was on the purchase page, they give you choices to buy
gene annotation services. I did not want this service, though you are forced to make a choice.
You can choose monthly, yearly, or forever. Somehow I wound up with forever which I did not want
I contacted them immediately about this, though they only let me go down to yearly.
Best is to get monthly as you can cancel immediately.
Yet, at $299 for the base product it is extremely good value.

I have written some R code and I think that I will be able to easily extract polygenic scores from the literature.
This would be fantastic!
There are polygenic scores for IQ, Alzheimer's, schizophrenia etc..
The R code should allow these PGS to pop up immediately.
On a previous thread, I spent what most have been months trying to figure out my AD PGS. It's embarrassing.
With the code it should be super easy.

This is the step into a very new genetics era.
This is the first time that genetics will truly impact human society.
With this sort of knowledge a genetically organized society becomes feasible and probably inevitable.
It is not clear how we will be able to cope with such an innovation.
One final genetic product that I am now looking around for is a nanopore phased genome.
This would allow me to see how the genotypes are specifically present on each chromosome.
Such information would offer you insight into how your genotype might be transmitted across generations.

Perhaps if there are a few people out there with $299 we can work together and post the snps and betas for some
traits that we might be interested in. I am stoked to see what my genetic IQ might be. This for me will be an all-time
life moment of excitement! How smart am I? It is an important question that I have always wanted an answer to. Nowadays
you can never be all that sure because everyone gets a trophy for showing up. Of course, I'll have to cry in my milk if
I have to settle for normal.
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