Creating Annotation Tracks from 1000 Genomes Phase 1 Data

If you have ever worked with NGS variant data, you may have come to realize that the first task at hand is the seemingly simple categorization of your variants into two bins: known and novel. Of course, if you’ve ever worked with NGS variant data, you may have also come to the realization that this step is more complex than… Read more »

Sequence Analysis Methods Not Just for Sequence Data

Speaking as somebody with a long history in data analysis, there are few things I find more exciting and tantalizing than new analysis methods that might apply to a problem I am trying to solve or was unable to solve in the past.  Whenever I make a breakthrough in one project, I find I want to abandon the current project… Read more »

Has it already been a year? The 61st Annual ASHG (and 12th ICHG)!

I can’t believe it’s that time again! Next week we are heading off to Montreal, Canada for the week of October 11-15 for the 2011 American Society of Human Genetics annual meeting, this year in conjunction with the 12th International Congress of Human Genetics. We are excited as ever to hear what everyone has been up to, how your studies… Read more »

Influencing the Global Dialog on Healthcare

httpv://www.youtube.com/watch?v=_5CUPMD0Agk On September 16-17th, I attended the Asia-Pacific Economic Cooperative (APEC) Health Systems Innovation Policy Dialog in San Francisco. It was a stimulating opportunity to look at global healthcare concerns from the perspective of developing and developed economies. There was much opportunity to  dialog and frame the issues around transforming healthcare systems to meet pressing problems such as aging populations,… Read more »

Wondering what SVS can do for a PhD student? Just ask Sander.

Sander van der Laan is like many PhD students in the genomic analysis space. He has a lot of data and a lot of ideas for how to analyze it. His professor wants results. He’s the only one doing genetics (everyone else in his department is doing proteomics), so there’s always too much to do. And he finds command-line tools… Read more »