Saturday
2:00 pm - 5:00 pm
Arrival and Check-in
3:30 pm - 3:45 pm
Introductory Comments by GRC Site Staff / Welcome from the GRS Chair
3:45 pm - 4:30 pm
Keynote Session: Integrating Human Genetics with Functional Genomics and Molecular Phenotypes
3:45 pm - 4:15 pm
"Fine Mapping Cellular Mechanisms from Immune Disease GWAS"
4:15 pm - 4:30 pm
Discussion
4:30 pm - 6:00 pm
Poster Session
6:00 pm - 7:00 pm
Dinner
7:30 pm - 9:30 pm
Resolving the Functional Impact of Genetic Variants that Drive Human Disease
7:30 pm - 7:45 pm
"gnomAD-SV: An Open Resource of Structural Variation for Medical and Population Genetics"
7:45 pm - 7:50 pm
Discussion
7:50 pm - 8:05 pm
"Identification of Protein Features Associated with Gain-of-Function and Loss-of-Function Mutations"
8:05 pm - 8:10 pm
Discussion
8:10 pm - 8:25 pm
"Comprehensive Functional Classification of Lynch Syndrome Missense Variants"
8:25 pm - 8:30 pm
Discussion
8:30 pm - 8:45 pm
"Mutations in FAM50A Cause Armfield XLID Syndrome: A Spliceosomopathy Impacting a Global Repertoire of Transcripts Involved in Neurodevelopment"
8:45 pm - 8:50 pm
Discussion
8:50 pm - 9:05 pm
"Predictive Modeling Implicates Threonyl-tRNA Synthetase (TARS) in Axonal Peripheral Neuropathy"
9:05 pm - 9:10 pm
Discussion
9:10 pm - 9:25 pm
"Using Gaussian Process-Based Machine Learning to Quantitate the Genomic-Phenomic Transformation by Histone Deacetylase (HDAC)"
9:25 pm - 9:30 pm
Discussion
Sunday
7:30 am - 8:30 am
Breakfast
9:00 am - 11:00 am
Revealing Novel Disease Mechanisms Through Innovative Analysis of Big Data
9:00 am - 9:15 am
"Identifying Cell Types and Driver Genes Through Deconvolution of Bulk RNA Sequence Data from Cerebral Organoids"
9:15 am - 9:20 am
Discussion
9:20 am - 9:35 am
"Mechanistic Dissection of Chromatin Topology Disruption as an Indirect, Strong Effect Driver of Neurodevelopmental Disorders"
9:35 am - 9:40 am
Discussion
9:40 am - 9:55 am
"Single-Cell Transcriptomics Identifies Effector Capacity as a Critical Determinant of Human CD4+ T Cell Response to Cytokines"
9:55 am - 10:00 am
Discussion
10:00 am - 10:15 am
"Genome-Wide Association Study Identifies Susceptibility Loci for Spontaneous Coronary Artery Dissection"
10:15 am - 10:20 am
Discussion
10:20 am - 10:35 am
"Exome Sequencing in Amyotrophic Lateral Sclerosis Implicates DNAJC7 as a Novel Genetic Risk Factor"
10:35 am - 10:40 am
Discussion
10:40 am - 10:55 am
"An Analysis of Sex-Specific Genetic Effects Across Neuropsychiatric and Behavioral Traits Reveals Shared Genetic Sex-Differences"
10:55 am - 11:00 am
Discussion
11:00 am - 12:30 pm
Poster Session
Coffee will be served in the poster area from 11:00 am - 11:30 am
12:30 pm - 1:30 pm
Lunch
1:30 pm - 2:30 pm
Mentorship Component: Strategies for Success in the Rapidly Evolving Field of Human Genetics
During the lunch preceding the panel discussion, attendees will have the opportunity to dine with mentors and discuss a variety of relevant topics (attendees will be assigned a mentor in advance of the meeting according to their preferences). Mentors will then serve as panelists in this session, where they will share advice and field questions from all attendees. Discussion topics will include: How to build a research program and start a lab; How to craft a compelling narrative about your research; Scientific publishing in the 21st Century; Human genetics in the industrial laboratory; and considerations for clinical genomics.
1:30 pm - 2:30 pm
Panel Discussion
Career Development in Human Genetics and Genomics
2:30 pm - 3:00 pm
Evaluation Period
Fill in GRS Evaluation Forms
3:00 pm
Seminar Concludes