Sequencing.comReviews of sequencing.com

I used sequencing for testing and running uploaded files. I tried the subscription service for a few months. Pros: the things that work are simple to use for beginners 30x (at the time I did it) was valid when compared to clinically run genome (should not be used clinically!) Ability to upload outside files Cons Site errors, billing errors, customer service issues Outdated reporting Clunky implementation of genome browser despite updates with poor variant calls (i.e. benign variant being called pathogenic) likely not updated to current concensus Bare minimum 30x = valid but missing a lot of information. About 12% of clinically relevant could not be reliably called due to a depth of <10. 4% of clinically relevant were miscalls when examined on igv I don't recommend using sequencing If you do choose to, please consider the above points and don't panic at any results (also if you believe you or your child have a genetic disorder- please consider full depth testing)

Sequencing.com offered what appeared to be a great deal for their whole genome sequencing kit—just $404 including shipping. I ordered my kit on June 9 and received an email receipt but no indication of when the kit would be shipped, how long it might take to arrive, or how to track the shipment. Having heard nothing for over a week, I reached out to support on June 17 to ask when I might expect my kit. The representative told me that shipping was delayed due to a supply shortage and they expected to ship it the following week. Another week passed with no kit and no updates, so I reached out again on June 24. The representative responded that they expected the kit to ship by the end of the next day. By this time I thought I had been scammed—I had paid for an expensive product, had received no communication about how to track my order, and had had the expected ship date pushed back twice. I responded that I would like a refund if the kit could not be shipped by the following day, 6/25. To my relief, the company processed my refund on 6/27. I emailed again to ask the representative if any of the cheaper kits were available to ship out. He replied that I could order them through the website—without actually telling me if they were available! My kit actually arrived after the refund—3 weeks after I’d ordered it. I thought that perhaps this was a courtesy from the company, but the activation code included with the kit was invalid, so I could not use the kit. When I reached out to customer service to ask why the code wasn’t working, the first representative to respond gave me instructions on how to get to the activation website—which was not helpful without a working code. When I wrote back to clarify my question, she never responded. I submitted a new support inquiry and heard from a different representative who explained that I would not be able to use the kit I had received because I had been given a refund. I gave 2 stars because I believe that a trustworthy company should take the reins when it comes to communication. -Provide tracking for expensive products. -Be as forthcoming as possible about delays. The customer should not have to reach out to the company first to find out about delays. -Read emails carefully and respond to the questions that are actually being asked. -If a product was sent in error, reach out to the customer and explain why it was sent and why it cannot be used.

After telling them to upload my VCF file from Dante Labs, I ordered a $189 report. When the report came it was completely wrong; e.g. the VCF file clearly contains Y chromosome data but the report said I was female. The page listing jobs run to generate reports said this job failed. The reports page gave the status for this report as "Error". It took a number of emails and a threat to do a chargeback before they finally refunded my payment. They did apologize for the delay. After the bad report I uploaded my FASTQ files and paid for another report, and that one looked correct. But I had to restart the upload 10-15 times (on a Mac). The upload tool does resume rather than starting over. I'm very disappointed with the quality of the reports at sequencing.com (and also at SelfDecode). It appears that all they do is apply open source tools to process the raw data, which would only cost a few dollars, then rummage in SNPedia and ClinVar looking for keywords that match the report and produce a summary based on how many good and bad SNPs were found for that keyword. Some reports are mostly general health recommendations for the subject of that report, plus a small summary generated from looking up the SNPs with very little detail. Some are mostly lists of results for traits or conditions, but without listing what variants were used to draw those conclusions. A few list detailed information, but I did not see any SNP numbers, just chromosome locations. I could write a prototype of the core part of such a system in a week or two (after becoming comfortable with the open source tools) and the cloud computing cost for analyzing the raw data would be less than $10. Both sequencing.com and SelfDecode failed to call attention to a very bad SNP in my data, other than to lump it in with minor issues. Promethease appears to do the same thing except that instead of aggregating the data from SNPedia (and maybe ClinVar) they just provide the actual data found about each significant SNP. And they do it for $12, which seems about right if you don't have to pay for the fancy website. Unfortunately they no longer accept the large raw files (BAM and FASTQ) but apparently the are working on that. The reports generated by sequencing.com (and SelfDecode) are simpler and easier to read than the Promethease report, and this may be better for most people, but the cost is outrageous. I expected a lot more for that much money.

UPDATE: I purchased FOUR DNA sequencing packages, which included one month of Silver membership from Sequencing.com for myself, my husband, and my two kids. Now that I have had a chance to use (or try to use) the service, I have some very definite problems with it. (1) MISLEADING ADVERTISING I purchased this based on the apps that were included on the sales page, which CLEARLY said "INCLUDED WITH MEMBERSHIP". However, when my DNA was available, two of the more expensive apps were NOT available. I was told that different companies decide which apps to make available. That feels a lot like "bait and switch" to me - if they might not be available, don't show them on YOUR sales page Sequencing.com. At first, the support people were helpful - until I changed my initial negative review to a positive one. Then they gave me some help but never followed up on the additional credits they PROMISED me during our chat (and in an email). Also the additions they gave me were merely (1) what I had been led to believe were INCLUDED, and (2) only for me and not for the three other people I purchased kits for. So still not what I thought I was buying and what thweir sales page. (2) DNA ANALYSIS OF LIMITED VALUE The price is $69 (normally $189) and the claim is :"~50X MORE DATA THAN 23ANDME AND ANCESTRY.COM" Maybe there is technically more data but it is LESS USEFUL. I have used 23&me in the past and while it is more $$, you can download the data and it is accepted by many other platforms and DNA analysis services. So in the end it's more valuable. Better to just pay the extra for 23&me Ancestry, or another more widely accepted analysis. (3) A service like 23&me is more $$ upfront but you get a lot more data - with Sequencing.com you have to pay for membership to use the apps. In just a few months it can cost A LOT MORE than the one-time-fee for 23&me. And 23&me is constantly updating their databases and giving me new analyses and reports for free - and I purchased from them years ago. CONCLUSION: From what I have experienced from Sequencing.com, I cannot recommend these products. Spend a little more upfront and you will get A LOT more information from a different, more comprehensive service.