Companies Providing Exome Sequencing And/Or Dna Segment Sequencing?
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10.7 years ago
jwells21 ▴ 60

Hello,

I am an undergraduate working on a human genetics research project seeking to identify a causitive genetic mutation responsible for a Mendelian family illness. Affected family members were genotyped using 23andMe SNP testing. We then analyzed the raw SNP data using Homozygosity haplotype to narrow down the genome to just a few candidate regions of interest, the largest of which is about 13 million base pairs in length. I'd like to proceed to the next step in gene identification, either by having each of these individual regions fully sequenced, or perhaps through sequencing the full exome.

Can somebody direct me to companies which offer this kind of service, preferably companies which offer their services direct-to-consumer? Also, does anyone know the approximate cost for this kind of service?

Thank you for your assistance!

exome sequencing • 4.2k views
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Entering edit mode
10.7 years ago

The PI with whom you are working (and under whose ethics-board approved research protocol you've no doubt already consented the study family for these experiments), should know this information. Have you asked him/her

There are many companies around the world that provide whole exome sequencing as both a clinical service and/or as a research service. In the US, clinical whole exome seq for a trio runs about $4K - 6K US, depending on the lab -- that typically includes the library prep, sequencing, as well as (often closed-source) bioinformatics analysis. Research sequencing is also offered by a number of companies in the US, as well as many many academic genome centers (so, it depends on where you are & who you know & who you want to work with). Target capture and sequencing of an exome in an academic center can run around $1200 to $1500 US per sample (paired-end, 100 bp reads, mean read-depth ~100x), sometimes cheaper if you have a research relationship with that lab.

Most of the commercial and academic labs also have the ability to design or help you design targeted exon seq, if you only want to focus on specific regions. In my experience, the commercial targeted capture solutions are more expensive than the whole exome seq (which is also a targeted capture of course), unless you are able to work with one of the newer molecular inversion probe protocols, or are working with a lab that can do this. As for analysis, most academic labs charge something for it in some way (although it can be done as a collaboration, again depends on the PI to PI relationship), or you could do the analysis yourself. The queue in an academic center for any of this work can be really long, especially if you do not have a research relationship with them & it's only one family that you are sequencing. Again, it really all depends on who your PI knows and wants to work with. I really think you should be having this conversation with your PI.

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10.7 years ago

If you are working in a research lab, I would assume a local sequencing core (possibly at your own institution) is probably the most cost effective strategy to do the sequencing (where you can either do the analysis yourself or see if there is something like the a bioinformatics core, or if the sequencing core provides basic analysis)

I am aware of this company offering the type of service you are describing (but I don't think it is direct-to-consumer), but I'm sure that there are others

https://www.genebygene.com/

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