My 23andMe Trio Exomes Arrived: Sneak Peek

[gaberudy]

I was lucky enough to not only get into the 23andMeExome pilot, but also to have my "trio" of my wife, myslef and my son sequenced.

I got the exome deliverables recently and started the analysis off by investigating the filtered variant list they provide on myself.

http://blog.goldenhelix.com/?p=1282

This post also introduced a new free tool my team and I have been building for the last 12 months: Golden Helix GenomeBrowse:

http://www.goldenhelix.com/GenomeBrowse/

Let me tell ya, GenomeBrowse blows IGV out of the water!

If you have suggestions on what type of analysis I should try on my trio, or ways in which I should investigate how 23andMe performed their exome sequencing, I'll be doing more comprehensive analysis over the next couple of weeks.

Suggestions welcome. Just reply!

[nilshomer]

GenomeBrowse looks like it is not a free tool. There's a free trial, but there is also a link for pricing and other information. Any ideas?

[gaberudy]

GenomeBrowse is not yet release, but it will actually be a free tool forever. Free as in beer free.


Golden Helix is obviously a commercial software company, and you probably noticed we do have commercial software available for genetic research. I'm sure you found the free trials of our flagship SNP and Variation Suite (SVS).

But we have been around for over 12 years and now in the position to be able to spend considerable R&D effort into a great product we intend to give away free to the community, now and forever.

I hope GenomeBrowse to showcase the attention to detail and focus on usability myself and my team put into this and our other products.

[adaptivegenome]

We'll see how it goes but even the title of the post is misleading. This has nothing to do with 23andMe and rather you are showcasing your new browser which for now we must trust "blows IGV out of the water".

[nilshomer]

I have my 23andMe exome results published on the web and would love to test the browser.

@adaptivegenome the link to the blog link covers the subject of this post.

[ymc]

I have my 23andMe exome results published on the web and would love to test the browser.

@adaptivegenome the link to the blog link covers the subject of this post.

Hi Nils, I tried to download your exome but there seems to be no seed for the torrent?

[nilshomer]

I added a few new trackers so hopefully it should be available now. Try re-downloading the torrent file (and perhaps refresh the page before).

[ymc]

I added a few new trackers so hopefully it should be available now. Try re-downloading the torrent file (and perhaps refresh the page before).

Hi Nils, I downloaded the 6.6GB tc file. But what can I do with it? Is it a truecrypt file? If so, what is the password?

[GenoMax]

I had a chance to see GenomeBrowse in action in a recent webinar. I must say it did look pretty impressive and may actually have the potential to do what you refer to below.

If it is going to be free (as the OP promises) then I am certainly willing to give it a try based on what I saw.

rather you are showcasing your new browser which for now we must trust "blows IGV out of the water".

[nilshomer]

Hi Nils, I downloaded the 6.6GB tc file. But what can I do with it? Is it a truecrypt file? If so, what is the password?

The password is in the details/comment section of the torrent file.