ASHG 2010, Post 1

I've been at ASHG for a couple of days, and this is my first chance to take some notes.

Day 1 (Tuesday, Nov. 2)

I didn't quite make it in time to hear the Distinguished Speakers, but fortunately, many of the talks are supposed to be online after Nov. 25 (at http://www.ashg.org/2010meeting). I'm especially looking forward to hearing Eric Lander's speech.


Fortunately, I did make it in time for the mixer :-) and was able to meet up with some old friends (hi Sibel!).

Day 2 (Wednesday, Nov. 3)

I have three areas of interest that I want to explore, and unfortunately, they sometimes conflict in my schedule.  The first is cancer sequencing--this is most related to my research.  Haven't seen much of that yet, though there is a session on Friday.  The second is sequencing for rare variant discovery, and the third is population genetics/genomics.

So, I was a little late for Carlos Bustamante's pop gen talk, but I still enjoyed what I saw.  It was really a more detailed version of his earlier work on measuring genetic variation across geography, but it's still quite cool.  Some of his students/postdocs gave talks in later sessions.

Wasn't able to see much else in the early morning, as I was still getting my bearings and spent some time catching up with people I ran into.  This is a good thing.

For the second morning session, I went to a section on Lessons from high throughput sequencing.  There were a number of cool 1000 Genomes talks, a talk by a student of Carlos Bustamante on genomic variation in the Americas, a talk on whole genome sequencing of a Japanese individual, and a couple of others.

The afternoon talks were quite good.  For the presidential address, Roderick McInnes' talk on cultural sensitivity was actually better than my expectations (I really didn't know what to expect when I saw the title).  One of the most interesting was the talk on Global patterns of RNA editing in humans, where the authors suggest novel evidence post-translational RNA editing.  At a cursory glance, this will need to be validated (how much of what they found were really errors/artifacts?), but if true, could have broad implications on sequencing.  Another talk discussed the use of imputation in implicating a variant of FBN1 in ascending aortic aneurysms, which was rather impressive when I first heard it, but has lost a little impact (on me) with the amount I've heard about imputation in this conference since then.

I wandered around the poster sessions after that, and found some interesting NGS-related software to explore (see the next post), and met Chunlin Xiao, who works on the NCBI sequencing pipeline.  Need to contact him again soon.

In the evening, I attended the 1000 Genome Tutorial.  I was feeling a bit out of it, but it was actually quite a good overview of the project.  Interesting note: the structural variation subgroup claims to detect deletions as small as 50bases.   This seems to suggest that the hard to detect deletions range from around <10 to 50 bases.

Day 3 (Wednesday, Nov. 4)

This morning, I struggled between going to a session on rare variant discovery, and on a separate session on population genomics.  Personally, I'm more interested in pop gen, but the rare variant discovery is more related to my work... or so I thought.  Unfortunately, for me, all of the talks discussed the use of pedigrees, and at the moment, none of my work is pedigree related. :-(  I would have gotten more out of the pop gen talks.  I did see most of the last one (on using HLA to map human variation), which seemed quite interesting.

For the second morning session, I attended the Statistical Analysis of Human Sequence Variation.  This was more up my alley.  I didn't get all of it, and not all of it was good, but it was mostly interesting.  The talks were mostly on imputation, with a few on other talks on other SNP calling methods.

I attended the RainDance lunch presentation on targeted sequencing.  They provided quite a nice lunch, and the presentations were somewhat interesting.  RainDance might be an alternative to our current solution based capture methods--it seems to be very accurate and a lot faster--but it's unclear if it would be worth the cost.

I'm taking the afternoon off, and this is where I am now... so I'll stop here.