I’m excited that the looming threats of government shutdown and hurricane landing have retreated, so I’ll make it to the American Society of Human Genetics meeting this week in Baltimore. Here are some events I’m looking forward to.
Cancer Genetics in the Genomics Era
Wednesday, October 7th, 11:00 a.m. to 1:00 p.m. in Hall F, Level 1
Adam Kibel and I are moderating this invited session, which features four distinguished speakers from the field of cancer genomics:
- Mike Dyer of St. Jude Children’s Research Hospital, on somatic mutations in pediatric solid tumors and identification of druggable pathways
- Li Ding of the McDonnell Genome Institute at WashU, on broad and in-depth computational analyses for large scale cancer genetics.
- Jan Korbel of the European Molecular Biology Lab, on the germline studies of the Pan-Cancer Analysis of Whole Genomes Project.
- Josh Stuart, of the UC Santa Cruz, on the newly uncovered mutation/CNA patterns and integrative subtypes revealed by TCGA’s Pan-Cancer project
Breast and Prostate Cancer Genetics
Wednesday, October 7th, 2:30 p.m. to 4:30 p.m. in Ballroom I, Level 4
This abstract-driven session will offer an update on the genetic basis of susceptibility to these two common cancer types. The 8 presentations span a wide array of approaches — GWAS, genetic modifiers, exome sequencing, family studies — all designed to discover and characterize predisposition alleles.
At 2:45 p.m., I’ll describe our recent work with Paul Goodfellow (formerly of WashU, now at OSU) to uncover the genetic basis of early-onset breast cancer via exome sequencing.
The Art and Science of Science Communication
Thursday, October 8th, 9:00 a.m. to 10:30 a.m. in Hall F, Level 1
Chris Gunter is moderating this symposium on effective communication of scientific processes/findings to multiple audiences:
- Ed Yong, author of the blog “Not Exactly Rocket Science”;
- Liz Neeley, executive director of The Story Collider
- Andrea Downing, a BRCA1 mutation carrier and patient advocate
It’s thrilling to see a session like this, which may not be the typical “hard science” of traditional symposia, but addresses the critical task of sharing our methods and findings to win continued grant funding and public support.
The Genetic Basis of Disease
Thursay is jam-packed with good content for gene hunters like myself. Here are some of the sessions that I’m particularly interested in:
Thursday, 2:30-4:30
- Session 25, Powering Up Complex Trait Genetics (Ballroom III, Level 4)
- Session 38: Adult-onset Neuropsychiatric Disease (Room 315, Level 3)
- Session 29: The Ever-Changing Chromosome (Room 318, Level 3)
- Session 30: Hard and Soft Tissue Syndromes (Holiday Ballroom 1, Hilton 2nd Floor)
- Session 31: Genetics/Genomics Education (Holiday Ballroom 4, Hilton 2nd Floor)
Thursday, 5:00-7:00
- Session 32: Human-wide Association Studies (Ballroom I, Level 4)
- Session 33: Decoding Variants in Coding Regions (Ballroom III, Level 4)
- Session 34: Reproductive Genetics (Room 307, Level 3), including a presentation by our collaborator Renee George on the role of rare loss-of-function variants in spermatogenic failure.
- Session 36: Approaches for Genomic Analysis (Room 316, Level 3)
- Session 37: Clinical Genetics (Room 318, Level 3)
- Session 38: Clinical Impact of Genetic Variation (Holiday Ballroom 1, Hilton 2nd Floor)
- Session 39: Mendel and Beyond (Holiday Ballroom 4, Hilton 2nd Floor)
Going Platinum: Building a Better Genome
Friday, October 9th, 2:15-4:15 in Room 316, Level 3
Our longtime collaborator Deanna Church is moderating this session, which will launch with Karyn Meltz Steinberg’s talk on single haplotype human genomes generated from long molecule sequencing will cover what we consider to be true platinum human genome assemblies. Spoiler warning: it’s not just high-coverage Illumina WGS data. That’s like, silver (if not bronze).
The Big Finish: Saturday Sessions
Many ASHG attendees travel home on Saturday (if not before), but the agenda this year is tantalizing.
- Opening up big data (10:30-12:30 in Ballroom III, Level 4), moderated by Joe Pickrell of NYGC and Joanna Mountain of 23andMe.
- Integrating genomes and transcriptomes to understand disease (1:45-3:45 in Hall F, Level 1), moderated by Michael Clark (Personalis) and Tuuli Lappalainen (NYGC). One of the featured speakers is our co-director Elaine Mardis, who will discuss the correlative power of DNA to RNA in cancer genomics at 1:45 pm in Hall F, Level 1.
Other less formal events that I’m looking forward to include:
- #ASHG15 Tweetups, the traditional and slightly-awkward rendezvous of meeting Twitterati.
- Breakfast and dinner meetings with my collaborators from Texas, Finland, and elsewhere.
My schedule for ASHG is very tight this year, but I’d love the chance to meet MassGenomics readers and fellow bloggers. Please give me a shout on Twitter if you’ll be there.