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by devonEnlis 3883 days ago
The information that we report is all publicly available from places like Pubmed ( http://www.ncbi.nlm.nih.gov/pubmed/ ) and ClinVar ( http://www.ncbi.nlm.nih.gov/clinvar/ )

It's conceivable that that one could look at each of the 600,000 lines in 23andMe's raw data and find these research reports individually.

We simplify that process and make the connections to research reports for you. Then, wrap it up in a nice package where you can compare your family member's data, get information on genes, generate PDF reports, etc.

Unless the FDA wants to shut down public access to scientific knowledge, then we don't expect to hear from the FDA. Others have been operating in this space for several years.
2 comments
tgb 3883 days ago
Seems like a good product, but my confidence is not inspired by your introductory video having a synthesized voice over. Seems like a dumb thing to potentially lose customers over.
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davej 3882 days ago
Is there anything that Promethease doesn't already provide?
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devonEnlis 3882 days ago
From the website: (https://www.enlis.com/personal_edition.html)

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Here are some of the differences and advantages of Enlis Genome Personal:

It's a full software application. Rather than just a webpage or single report, Enlis Genome Personal is a full application that you install on your computer and load your genome data.

Ability to load multiple genomes and compare them side-by-side. You can load all your family member genomes together, or load multiple copies of your own genome (i.e. you have data from 23andMe and Ancestry.com), or you can compare your genome to available sample data.

Ability to generate custom disease and trait PDFs, suitable for email or printing. A sample Macular Degeneration PDF is sent with every free genome report.

For a particular disease or trait, this software will tell you how many known disease positions were successfully sequenced in your data, and how many are missing. For example, if you are interested in a hereditary disease like Cystic Fibrosis, it will indicate there are 270 known variants that cause Cystic Fibrosis. Your data covers 101 of those positions, and there is missing data on 169 positions.

More extensive information on each SNP, like variant mammalian conservation, or variant deleterious predictions. Much more information on the function of genes and where in the body those genes are expressed.

User friendly interface that is easy to use. Includes a genome browser so you can see your data in the context of genes and chromosomes.

For 23andMe users - better quality control and more data: We discovered over 500 SNPs with inaccurate data in the 23andMe results, and we automatically filter those out. See blog post here. We are the only service to identify and analyze over 1,000 of 23andMe's proprietary insertions and deletions. Most of these can have a health impact. See blog post here.

For users with whole genome or exome data: We give you the tools to make new discoveries about your data. Advanced variation filter, phenotype explorer, homozygous region analysis, and over 20,000 built-in gene categories. An example - our founder used this software to discover a cause of a rare phenotype in his whole genome data. How long did it take? Less than 30 seconds.

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