Unsatisfied C.
Advertised service wasn't as I expected
In April of 2025 I purchased a 30x whole genome sequencing from sequencing.com for $400. I had hoped to get a copy of all my DNA base pairs which I could use to check against news articles relating to genetic disorders and to examine my DNA for my own autoimmune condition. I learned that sequencing.com cannot provide a copy of your/my DNA. They advertise on their website statements like "We obtain 100% of your DNA data while other DNA test providers obtain data on less than 0.1%." and "Whole genome sequencing is the world’s most advanced genetic testing technology that tests every letter of your DNA". After I sent the saliva test in the company gave me regular updates for about 5 weeks before they were done. At that point logging into their website I was able to see that they had some reports about the genetic predispositions they were able to find. Nothing interesting to me except they didn't detect the autoimmune condition I have. But what I really wanted was a copy of my DNA so on the files section of their website I clicked download on the files and was met with a message that I can't download them unless I wait 1-3 days. So I clicked unarchive and waited till the files were ready. On downloading the files I noticed that they were more like high level information instead of DNA information except one file which was full of short reads. Chromosome 1 is ~250 million base pairs long. The only DNA data they provided were a list of short reads that were each 150 base pairs long, not 150 million just 150. I tried to call them but eventually their automated system told me to visit the website and hung up on me. So on the website I went to click to chat which brought me to an AI which insisted I did get my whole genome. After pressing it it said I could get my DNA in bam file format (a compressed file with DNA base pairs along with how that DNA aligns to the human chromosomes) if I talk to a person. I asked to speak to a person, which took a couple of hours before a person read my chat with the AI and responded. He said he would provide my genome within a week in bam file format. A few days later the bam file was ready and looking inside it was also only short reads 150 base pairs long. Although this time there was some alignment data. Which chromosome the read came from and where it goes and how confident they are in that alignment. It seemed like enough information that I could assemble my genome myself so I got to work on that for at least 50 hours. Ultimately spades (a freely available tool designs to turn short reads into a genome) did very poorly, but a tool called megahit was able to produce about 40% of the base pairs in chromosome 1. I searched for 5 or so genes and none were found, I believe because there were too many gaps/errors in the data. After some reading I suspect that their technique of short reads just isn't able to get 100% of the genome and is especially poor at detecting missing sections of DNA, like in my condition. I went back to sequencing again to ask them for the product they advertised and that I paid for. They insisted that they had sequenced my genome. If that is true they did not and would not provide that to me. I have checked and double checked the files they provided and they definitely made no attempt to supply to me my genome. I am very unhappy with their service and their advertisements that sit somewhere between false and misleading. They also signed me up for a recurring subscription that I didn't sign up for or want. UPDATE: After working with sequencing.com support I have some updates. They helped me see my genome for the first time by loading up the bam file into a program called Golden Helix. It shows over 90% coverage and probably covers most of the important stuff. Failing on areas with lots of repeats. Using this tool I was able to detect missing sections of DNA in my genome after all. I think for some people their service is just what they want but I want to reiterate that if you want a copy of your genome with the first letter to the last letter they will not provide that to you. But you can produce it yourself using the BAM file and Golden Helix. I do still find it strange that they don't provide the genome when they have enough data to provide most of it. I do feel like if they choose not to provide the genome in human readable format or even instructions on how to do so they should probably change their advertising material to say they will provide a report or analysis not the genome itself. For me I didn't like Golden Helix as a final solution because I wanted to use things like blastn and text search on the data so in order to create a text file with the letters of my DNA I had to figure it out on my own using a combination of of samtools, bcftools, and awk. I would guess if you wanted to move your DNA to another company they would be more interested in the BAM file.
Response from Sequencing.comJun 13, 2025
Hi - Thank you for your feedback. We’re sorry to hear about your frustration and appreciate the opportunity to clarify. We did sequence your whole genome and provided full access to your raw data and analyzed reports. The raw data included raw sequencing files such as FASTQ, BAM, and VCF files. These files represent the complete sequencing output and are aligned with industry standards for clinical-grade WGS data. The raw data consists of short reads of 150 base pairs which is consistent with industry best-practices for short-read 30x whole genome sequencing. When aligned using GRCh38 reference genome and reference-based assembly, this provides full genome coverage. We appreciate that you've attempted to perform de-novo assembly of raw sequencing data yourself, and spending 50 hours on this shows your dedication and is highly impressive, but whole genome sequencing pipelines that assemble FASTQ data are incredibly complex and can take a team of bioinformatics experts months to properly configure. I sincerely apologize for the confusion and want to clarify that your BAM file does include the aligned reads and genome-wide coverage that reflects your whole genome sequencing results. While we understand this may not meet your expectations for a fully assembled personal genome in readable base-pair order, no clinical laboratory using whole genome sequencing technology delivers that directly assembled output to physicians or consumers. the standard is to deliver the raw data as FASTQ, BAM (or CRAM), and a genome VCF, which were delivered to you as part of your results. Regarding the subscription, it is optional after the 30-day free trial, and can be downgraded to a Free Plan anytime through your account settings. The subscription provides access to Premium features, including monthly updates to your results to keep them up-to-date with the latest research and access to AI features such as SequencingAI Chat and AI Reports. If you downgrade to Free, you'll continue to have access to all of the raw data and reports included with your kit bundle. Our Support Team has already reached out to offer additional assistance. We look forward to speaking with you.