I have written before about having my whole genome sequenced through the Personal Genome Project and releasing my results to public domain, and about third party data analysis available for people who have access to their raw whole genome sequencing data. I recently learned of a new option for consumer WGS raw data analysis, called Genomic Explorer. This new tool provides analysis and interpretation of consumer DNA data, including both SNP chip results as from 23andMe or AncestryDNA, and also including whole genome sequence data.
Background
Not very many third-parties offer detailed analysis or interpretation of consumer genomic data. One of the most well-known, Promethease, has existed for a while but can appear overwhelming for a novice user. Individuals sharing their genome data through OpenHumans also have access to a new tool called Genevieve (see my public WGS Genevieve report here).
Now enough people have sequenced their genomes that more third-party options have begun to appear. Some, like FGC, specialize in genealogical-type analysis, others like DNA.land provide whole genome imputation based on SNP chip data and help a user to find others with matching DNA segments (GEDMatch gives us another example of relative-finding tools).
This new tool, Genomic Explorer, focuses primarily on non-medical trait interpretation (e.g. educational attainment, male-pattern baldness, motion sickness, endurance performance, caffeine/alcohol/tobacco usage behavior, personal traits like agreeableness, openness, neuroticism, and so on) for users in the United States. Non-US users may have access to medical interpretation, depending on laws in their jurisdiction. At this time, Genomic Explorer has made access available for users with SNP chip data from 23andMe or AncestryDNA, and has opened up a WGS interpretation trial limited to 30 users. After uploading my 23andMe data I followed the links to request access to the WGS trial and provided the team with a link to my public domain WGS data sequenced by Veritas Genetics as part of the Harvard Personal Genome Project. Genomic Explorer accepted me into the trial and informed me that it will take about a week or so to import my WGS data, so I do not intend to write a full review of the tool at this time until I have had a chance to run it against my whole genome. In the meantime they offer access to a demonstration using sample data.
Who can participate?
I contacted the Genomic Explorer team to ask for more details about their offering and who can participate. Their response:
– 23andMe & Ancestry.com users can upload the genome data and use GENOMIC EXPLORER for FREE.
– For existing WGS data holder, the company is offering the trial use of GENOMIC EXPLORER with uploading your WGS for FREE (for the future, there would be some fee to upload), but the spots are limited only for 30 users. If you have your own WGS data and are interested in participating in the trial, you can reach to the team via info@awakens.tokyo.
They have not specified whether or not they could accept and process imputed whole genome data such as DNA.land provides, but I would take great care in trusting imputed data beyond a certain point anyway, so if you have both 23andMe/Ancestry data and imputed DNA.land data based on that SNP chip, I would suggest uploading your SNP chip data rather than trying to use an imputed WGS dataset.
I hope that other PGP participants, or those with Veritas Genetics MyGenome data, or those who have had FGC perform whole genome sequencing, take advantage of this opportunity to put those large data files to further use and check out Genomic Explorer. We all win as this market grows and competition comes in.
Getting started
Visit the Genomic Explorer signup page to create an account, upload your SNP chip data, and ask about the WGS trial. Processing of my 23andMe data went very quickly and I had it usable in the tool in minutes.
What’s the catch?
As a newly released service, Genomic Explorer has requested feedback on their site from trial users, via online submission and potentially a user interview via Skype. This gives anyone interested in trait analysis of consumer DNA results a chance to provide input into the design of and user experience provided by the tool, as well as a chance to potentially gain some insights otherwise unavailable to them, at a great price (free). In the future they intend to charge a fee for WGS data and I believe they will also make a move into performing sequencing directly instead of only using data produced from other sources.
Conflicts
I have no affiliation with the company behind Genomic Explorer other than participating as one of the 30 whole genome sequence trial users and offering them feedback.
Pardy DBA 