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October 24, 2018

The Insight Show Notes — Season 2, Episode 5: Reflections on ASHG 2018

Filed under: ASHG,Genetics — Razib Khan @ 3:46 pm

The Insight Show Notes — Season 2, Episode 5: Reflections on ASHG 2018

This week on The Insight (Apple Podcasts, Stitcher and Google Play) Razib Khan and Gareth Highnam discuss our impression of the most recent meeting of the American Society of Human Genetics.

The ASHG meetings have been putting technology front and center. That is because human genetics, that is, human genomics, have been very technology-driven fields of science. Many of the commercial vendors focus on information technology and data storage, due to the copious production of DNA sequence in high-throughput genomics.

There was also extensive discussion about the need to diversify genomics from an ethnic perspective for more accurate medical inference. Here’s an article on this topic: Genetics has learned a ton — mostly about white people. That’s a problem.

Massive sample sizes and whole-genome analyses have been transforming our understanding of human variation and disease. One area where we saw new results was in the domain of “missing heritability.” See this: Comparison of methods that use whole genome data to estimate the heritability and genetic architecture of complex traits.

Many people at the meeting were talking about the intersection of race and genetics, triggered by an article in The New York Times: Why White Supremacists Are Chugging Milk (and Why Geneticists Are Alarmed). Here is the ASHG response: ASHG Denounces Attempts to Link Genetics and Racial Supremacy.

We discussed two important results that were novel presented at the conference. Further refinement of the human mutation rate from the sequencing of a well-known pedigree. And, the first GWAS hits that are likely to be replicated for homosexuality.

Interested in learning where your ancestors came from? Check out Regional Ancestry by Insitome to discover various regional migration stories and more!


The Insight Show Notes — Season 2, Episode 5: Reflections on ASHG 2018 was originally published in Insitome on Medium, where people are continuing the conversation by highlighting and responding to this story.

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.

Interested in learning where your ancestors came from? Check out Regional Ancestry by Insitome to discover various regional migration stories and more!


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.

October 12, 2017

Attendance at ASHG Meetings since 1981

Filed under: American Society for Human Genetics,ASHG,Human Genetics — Razib Khan @ 6:18 pm

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