This week I’ll be at the American Society of Human Genetics annual meeting in Orlando, Florida. This meeting is the largest gathering of human genetics professionals (over 7,000 attendees) and offers, in my opinion, one of the best educational opportunities for our field. One reason it’s so valuable is simply the diversity of scientific content presented over the course of four and a half days. As current ASHG President Nancy Cox wrote in a lovely welcome message over the weekend:
Of all scientific specialties, human genetics is no doubt most cognizant of the value of diversity. Quite literally, we — as a science and as a species — would not be here without it.
The disadvantage of the ASHG meeting, if there is one, is that it’s physically impossible for one person to attend all of the sessions they desire. The concurrent abstract-driven presentations in particular force attendees to choose one of nine talks happening simultaneously. This is torture. How am I supposed to choose between Genetic Architecture of Rare Variants Across Diseases and Gene Discovery in Skeletal Phenotypes!?
I take solace in the growing cadre of attendees who provide real-time Twitter coverage on meeting hashtag (which this year is #ASHG17). I’ll be part of that unofficial press team, so be sure to follow @MassGenomics. I’ll also provide a daily blog update with highlights from the meeting, so check back here often.
By the way, if you’re a reader, a friend, or a former colleague who will be attending, I’d love to see you! Please get in touch. Otherwise, here’s where I’ll be:
Tuesday at ASHG
I’ll arrive for the ASHG Presidential Address by Nancy Cox entitled Checking, Balancing, and Celebrating Genetic Diversity. Immediately afterward are the McKusick and Stern award presentations / lectures. Afterward, we jump into the first featured plenary abstract session, where I’m particularly keen to hear about:
- An atlas of 8,342 mosaic SVs ascertained in 151,000 UK Biobank participants using genotype intensity data.
- An intronic tandem repeat that appears to modulate gene expression and Alzheimer’s disease susceptibility.
Speaking of Alzheimer’s disease, a paper describing the study design and sample selection in the Alzheimer’s Disease Sequencing Project was just published at Neurology Genetics. It technically came out on Friday at 4pm Eastern, which seems like a terrible time to publish a research paper, so I’m going to pretend it came out today. This, to my knowledge, is the first consortium paper to come out of the ADSP. I hope it’s a sign of more to come. Disclosure: I’m a middle author.
Back to ASHG: A unique session called poster talks will take place on Tuesday evening. These are allegedly lightning presentations (~4 minutes each by my calculations) of some of the highest-scoring poster abstracts selected for the meeting. I’ve promised myself to do a better job of visiting posters this year, so that’s where I’ll be. With luck, someone will cover the Million Veterans Program presentation taking place at the same time.
Wednesday at ASHG
There’s an early morning event by WuXi NextCODE called Genomes for Breakfast: Using Population Genomics to Understand Common and Rare Disease. Then I’ll hop over to the convention center for the first concurrent abstract-driven sessions. There’s a very interesting session on mosaicism in human disease (session 12), but I expect I’ll spend most of my time in session 10, Disease Gene Discovery Strategies.
The first talk (9:00) in session 10 is by my former colleague, Karyn Meltz Steinberg, on integrated sequence technology approaches to genomic diagnosis of birth defects. She, along with Sesh Cole, Dan Wegner, and other great folks at WashU, have applied whole genome and transcriptome sequencing to ~37 trios with undiagnosed congenital disorders.
At 9:30, I’m scheduled to do an interview with ASHG TV. It’s a chance for me to preview our VUS-busters invited session, and a chance for all of you to see me trying not to be awkward on video.
The next concurrent platform session offers too many choices: cancer genetics, advances in association analysis, strategies for variant interpretation (where I’ll spend most of my time), and more. At 11:15, Charleston Chiang will present insights into the Finnish population structure and genetic architecture of cardiometabolic traits, using 20,000 exomes generated at WashU for the FinMetSeq project.
The lunch break (12:30-1:45) features commercial presentations by 10x Genomics, Agilent, 23andMe, Pac Bio, Illumina, and IDT, among others. I do recommend the 10X Genomics presentation, as Deanna Church gives an excellent talk on ways to leverage the long-read technology. Having seen that already, I’ll probably go Illumina or IDT.
The afternoon will be given over to poster session I (which I’ll largely miss due to a collaborator meeting) and awards presentations. But I’m super excited about the presidential symposium (5:00-6:30), a conversation between Francis Collins and Bill Gates. SUPER EXCITED. Yes, I’m a huge nerd.
Thursday at ASHG
Thursday opens with the most Highlander of all concurrent platform sessions, session C. I’m somehow supposed to choose between:
- Gene discovery in skeletal phenotypes (which we see frequently at NCH)
- Genetic architecture of rare variants across diseases
- Noncoding variation and epigenetic effects in cancer
- Computational methods for causal inference in complex traits
- High throughput functional analysis of enhancers and variants
… and at least four other compelling sessions. I’ll be session-hopping between almost every talk and otherwise glued to the #ASHG17 hashtag.
Another concurrent session at 11-12:30 will force some tough choices between neuromuscular disease, natural selection, and intellectual disability, but I’ll probably devote the most time to session 46, Sequencing in Neonatal and Pediatric Disorders. In the early afternoon, I’ll be in the Thursday poster session.
The easiest choice of content comes Thursday afternoon at 4:15, when I hope everyone will attend our Clinical Spotlight invited session, VUS-busters: Cutting-edge Strategies for Interpreting Variants in Clinical and Research Sequencing. My co-moderator Aaron Quinlan and I have the pleasure of introducing four outstanding speakers:
- Anne O’Donnell-Luria (Boston Children’s / Broad Institute) on using large-scale, diverse reference databases to improve variant interpretation.
- Kim McBride (Nationwide Children’s Hospital) on identifying oligogenic causes of congenital heart disease.
- Nara Sobreira (Johns Hopkins University) on novel analytical approaches for solving “unsolved” exome cases.
- Peter Robinson (The Jackson Laboratory) on phenotype-driven analysis of exome and genome data.
Please come and ask all the questions so that Aaron and I don’t have to.
Friday: My Last Day at ASHG
The morning concurrent session on Friday offers some great content. I’ll probably devote most of my time to session 48, Data Sharing to Improve Genomic Variant Interpretation, and session 62, New Paradigms for Regulatory Variant Contribution to Disease Risk. I’m a sucker for regulatory variation.
The next session is a shorter one (10:15-11:15), where I’ll divide my time between session 72, Clinical Genomics in Cancer, and session 73, Transcriptomic Analysis of Genetic Variation and Disease. Following that is the Friday Poster Session and a rare lunch break where I have nothing scheduled.
Friday afternoon brings the second set of invited sessions. I’m likely to divide my time between two promising sessions:
- Session 81, Dissecting the Etiology of Mendelian Diseases Characterized by Extreme Heterogeneity
- Session 83, Using Controls from External Studies: Issues, Methods, and Successes
Saturday at ASHG
I will depart on late Friday, so I’ll miss two rounds of concurrent abstract-driven sessions on Saturday morning. However, I’ll be following the hashtag to hear about session 93, Identification and Function of Enhancers, and session 98, Improved Interpretation of Missense Variants.
Safe travels to everyone who’s headed to Orlando this week. See you there!