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I teach pharmacogenomics at Southern Illinois University and I am a subject of the Personal Genomes Project. I got a seed grant from my university an my genome is being sequenced by Complete Genomics, while my exome is being sequenced by Otogenetics using the Niblegen v2 capture. I have annotated the mouse and human genomes at the Washington University Genome Sequencing Center, and nematode genomes with Divergence, Inc.
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Professor of Pharmaceutical Sciences at Southern Illinois University. Subject of the Personal Genomes Project with CGI genome sequencing, funded by a university seed grant. Annotated human and mouse genomes at the Washington University (St. Louis) GSC during Bob Waterston's tenure. Worked in nematode gene discovery at Divergence, Inc. Recent NSF grant in yeast recombinant genetics. Teach pharmacogenomics, human genomics and pharmaceutical biotechnology. -
Bioinformatics Applications, Europe
Lifetech Inc. http://www.lifetech.com/ -
SNPedia
Thanks for the tip. I use Promethease for my 23andme data, but I was not aware that they have incorporated CGI data analysis as well.Professor of Pharmaceutical Sciences at Southern Illinois University. Subject of the Personal Genomes Project with CGI genome sequencing, funded by a university seed grant. Annotated human and mouse genomes at the Washington University (St. Louis) GSC during Bob Waterston's tenure. Worked in nematode gene discovery at Divergence, Inc. Recent NSF grant in yeast recombinant genetics. Teach pharmacogenomics, human genomics and pharmaceutical biotechnology.Comment
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SNPedia + Promethease + Complete Genomics =
Hello, I'm the author of Promethease.
It does have support for Complete Genomics formatted files, and I'll be curious for you to confirm that it works for you as easily as your previous 23andMe data. ... albeit a bit more slowly due to the size.
There are 2 files available from CGI, one is the 'masterVarBeta', and I expect they intend to give that to you. However there is another file, the 'dbSNP' file which may or may not be included. That file will help to give you the most comprehensive Promethease report possible.
Assuming the Nimblegen format includes rs#s, I'd be willing to add support for that as well. That would allow you to pool all 3 platforms and immediately highlight rs#s at which they disagree.
The combination of 23andMe + CGI dbSNP + Nimblegen file would probably make you the new leader for the title 'most genotyped' among SNPedia. Without it your data would be most comparable to the current leader who has combined 23andMe with CGI masterVarBeta. Still it's a good example of what you can expect.
is the person, and there you can find various platform specific reports, but the combined everything version is at
The part that I think is of most interest to you is
(Warning Large File URL)
PharmGKB is one of the largest Topics in SNPedia. David Duncan here shows 2015 PharmGKB snps as I write this. As you scroll past the first 100 the color gets lighter, and then suddenly jumps back to bright red. This marks the end of the genotypes with an assigned magnitude.
and the beginning of the section where we know only the HapMap frequency. At present David Duncan here shows 2 with 0.0% frequency one of which seems quite interesting.
rs12272004(A;A) is well replicated as having some sort of effect. But I nor SNPedia can yet say much more about it.
He has many other SNPs. If you quickly scroll the rest of the report you'll see the colors gradually fade then jump at new sections. Down at the very bottom are the green snps, where we've already concluded you have the normal form.
Your own report will substantially overlap with his. If you or your students would annotate any part of your genome in SNPedia in this way, it would immediately benefit David Duncan's report.
Similarly, improving his report today would improve the Promethease report you'll make when your CGI data arrives. Obviously you'd be helping to improve many other people's genomes at the same time.Comment
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The dbSNPAnnotated file is a standard deliverable that is included in the ASM folder for all genome assemblies.Shaun Cordes, PhD | Customer Support Scientist | Complete Genomics, Inc.
Toll-free: (855) 267-5358 | Direct: (650) 943-2651
[email protected]Comment
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Cancer survival rates have significantly increased in the last few decades in the United States, reaching a combined 70% 5-year survival rate by 2021. Behind this number, there are years of research to find new therapies, drug targets, and early detection methods. But there is one core challenge that keeps slowing down these advances, and it’s about drug resistance.
There is no single reason why many patients don’t respond to treatment as expected. Cancer is...Today, 05:17 AM -
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I’m not a sequencing expert. I’m a purification scientist who uses NGS to evaluate workflows my group develops. With this perspective, we think about the sample first and the NGS workflow second. The sequencer is an exceptionally honest reporter, but it can only report on what you give it, so whether you get clean, interpretable data from an NGS workflow is largely determined before you begin.
Here are nine questions we think about, in roughly the order they matter, before...
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