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October 23, 2018

Reflections on ASHG Meeting 2018

Filed under: ASHG,Genetics,Genomics,Illumina — Razib Khan @ 10:17 pm

Another meeting of the American Society of Human Genetics has come and gone. I’ve been going since 2012, and so want to post some observations of how things have changed. This is a big conference. From less than 1,000 people in the late 1970s to nearly 10,000 today.

First, more genomics, less genetics.

The meeting dates to the late 1940s, and originally focused on the classical genetic analysis of human characteristics. Consider the pedigree one might find in a medical text.

Over the past generation more and more of the presentations and posters focus on genomics, surveys of the whole totality of our DNA sequence. This is where medicine and human genetics more generally is moving in any case.

Vendors such as Illumina loom large, but the firehose of data is so powerful that compression companies also arrive at ASHG. In other words, ASHG is a combination of a science, medical, and tech, conference.

Second, a major shift in focus outside of traditional European study populations.

ASHG foregrounded the focus on Africa and other non-European regions to highlight the importance of the capturing of global genetic variation. A fair number of presentations and posters were on this topic, as well as a series of plenary talks.

One thing I’ve noticed is that many talks and posters now present data and results which have been posted as preprints. In past years a lot of novel and new results were first presented at the conference, but now the meetings seem to be more like a halfway point between posting the preprint and the publication of the final paper. This means that networking and career development have become as important as the science itself.

Probably the most notable result that hasn’t been posted as a preprint was the first robust signals of association between genetic variations and homosexual orientation in men. Though there is a history of these reports, this one is clearly a case where the authors went through all the statistical checks to make sure these are true hits. Some in the audience reacted negatively, but the research group was really careful.

Exciting times in the world of genetics and genomics. Very excited for what 2019 brings.

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Reflections on ASHG Meeting 2018 was originally published in Insitome on Medium, where people are continuing the conversation by highlighting and responding to this story.

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