Whole genome sequencing direct to costumer?

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Mike Petersen

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Oct 10, 2014, 4:46:46 PM10/10/14
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Hi DIYbio members,

does anyone know a company that offers direct to costumer whole genome sequencing at an afforable price?
And would that mean you can get the raw data which can be used in Promethase and SNPedia?
Do you also know if the "whole genome sequencing" really involves the whole genome or is it only the exome without the introns? What about the mitochonrdial DNA sequence?
Thank you for your answers

Mike
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Cory Tobin

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Oct 10, 2014, 5:44:40 PM10/10/14
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Depends on what you consider affordable. GeneByGene does consumer sequencing.
https://www.genebygene.com/pages/research#
It will cost you around 8k USD for a full genome. If you just want
your exome they'll do it for a little over 1k.

-cory

SC

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Oct 10, 2014, 5:45:22 PM10/10/14
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Hi Mike,
It depends on what you mean by "complete genome".  An actual complete genome, fully sequenced and assembled, runs ~120K, but you probably don't need all of that.  It seems you're looking for SNPs to enter into a program.  Do you needs SNPs in coding regions only?  Or do you want to restrict the set of SNPs to those that have clinical or trait information associated with them?  Sequencing a complete human mitochondrion from a cheek swab runs about $300, fully assembled.
Any of these things can be done directly for anyone who wants to write the check.  If you tell me your ultimate goal, I'll be happy to point out some companies that will help you.
Stacy

SC

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Oct 12, 2014, 12:11:24 PM10/12/14
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I see that while 23andme will no longer provide medical reports, they will still run the same tests and provide the raw data:
This inclide SNPs and may be the information you're looking for.   They charge $99 for the whole chip.
Good luck to you!

Mike Petersen

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Oct 13, 2014, 3:18:23 PM10/13/14
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Hi Stacy,
yes, indeed i`m looking for SNPs. Actually I´m not sure if I only need SNPs in coding regions. As more and more genome-wide association studies are published wouldn´t it be nice to have your "whole genome" in a personal database. When you just run the analysis on the SNPs we know today, then in some months there will be many more. so wouln´t it be useful to have the whole seqence of your DNA to make some use of that information in future?
I´m excited which companies you can recommend.
Thank you :)
Mike

SC

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Oct 13, 2014, 9:57:32 PM10/13/14
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Hi Mike,
Yes, absolutely, it would be great to have our own completely sequenced genome in hand to accomodate the new SNP associations that will surely become available.  The question is how much we are willing to pay for such coverage.  A mid-range option may be unassembled Illumina sequence.  You get a large amount of sequence for relatively cheap, but it will be in small pieces and can't be completely assembled on its own.  This may be a good place for you to start for SNPs.  If later on you decide to spend more, you can sequence more and improve the assembly.   You're looking at ~1500 for the library and the run.  Check Yale's sequencing center, they have a pretty fast turnaround.   You should also google "Illumina sequencing service", as prices can vary and different places may offer different things that might suit you better.
Good luck!
Stacy
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