10. February 2014 · Comments Off on Looking back at looking forward: ASHG 2013 · Categories: Conferences, Science · Tags: , ,

Wendy offers a retrospective on the forward-looking atmosphere at last year’s American Society of Human Genetics meeting, in Boston

Looking into the future is something I felt the Annual ASHG conference focused on more this year than last year. One man who certainly has form for looking into the future is the Dermatologist Rudolf Happle. In the eighties Happle predicted a number of genetic conditions would be mosaic and, following the advent of whole exome sequencing, he has turned out to be correct in his predictions so far. Therefore I was rather pleased to catch him as the opening speaker in a stimulating session on mosaicism chaired by Leslie Besecker and William Dobyns.
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28. October 2013 · Comments Off on A neat idea to tell polygenic signal from stratification noise · Categories: Conferences, Science · Tags: , , ,

One of my favorite presentations at ASHG this year was a poster given by Brendan Bulik-Sullivan from the Broad. Brendan and his colleagues attempted to answer a puzzling question which has come up quite often recently: “If we see an inflation of GWAS test statistics, is it because of polygenic risk (good) or population stratification (bad)?”
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The American Society of Human Genetics (ASHG, pronounced “A-shag”), annual meeting is a scientific, networking and socializing milestone every year. This year the meeting was 8 time zones away from the UK in San Francisco, CA. It was a busy year for our group, with 4 talks and a poster being presented, a variety of collaborators’ meetings to attend, a choice of hundreds of talks to listen to, and, of course, plenty of drinking to do.

Each member of the group who was there offers their thoughts after the break. It’s interesting to see that while we covered a wide variety of topics across the group, the most consistent message is that this year didn’t yield any major discoveries that will change the field. Instead, we all saw incremental progress in applying next-gen sequencing and similar technologies to many different problems. Perhaps this is simply a reflection of the nature of modern human genetics: a gradual improvement of our understanding, rather than a sudden revelation.

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