Novel Approaches to Unraveling the Human Genome

July 8 - 9, 2017

Chairs

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Conference Description

The Gordon Research Seminar on Human Genetics and Genomics is a unique forum for graduate students, post-docs, and other scientists with comparable levels of experience and education to present and exchange new data and cutting edge ideas.

The focus of this meeting is "Novel Approaches to Unraveling the Human Genome". We will discuss new methods to identify and alter the composition or expression of genes, the application of model organisms in human genetics, and how these approaches can identify druggable targets.

Related Meeting

This GRS will be held in conjunction with the "Human Genetics and Genomics" Gordon Research Conference (GRC). Those interested in attending both meetings must submit an application for the GRC in addition to an application for the GRS. Refer to the associated GRC program page for more information.

Conference Program

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: The Application of Human Genetics in Disease Models Discussion Leader:
3:45 pm - 4:15 pm	"The Hidden Nature of Recessive Selection: Detection from Human Population Data and Implications for Disease Models in Distant Organisms"
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	Strategic Approaches in Assessing Genomic Variation Discussion Leaders: and
7:30 pm - 7:45 pm	"Identify Novel Oncovirus in Human Cancers Using Whole-Genome Sequencing"
7:45 pm - 7:50 pm	Discussion
7:50 pm - 8:05 pm	"Demographic History Impacts Polygenic Risk Across Diverse Populations"
8:05 pm - 8:10 pm	Discussion
8:10 pm - 8:25 pm	"Traits Associated with Parkinson's Disease in a Large and Deeply Phenotyped Cohort"
8:25 pm - 8:30 pm	Discussion
8:30 pm - 8:45 pm	"Machine Learning Strategies to Identify High Confidence Structural Variants in Human Genome Reference Materials"
8:45 pm - 8:50 pm	Discussion
8:50 pm - 9:05 pm	"The Genomic Autopsy: Using Whole Exome and Whole Genome Sequencing to Solve Complex Fetal and Neonatal Presentations"
9:05 pm - 9:10 pm	Discussion
9:10 pm - 9:25 pm	"Physical Interaction in Human Beta-Cells Between Islet eQTL Sites and Target Gene Promoters at Loci Associated with Type 2 Diabetes Risk and Glycemic Traits"
9:25 pm - 9:30 pm	Discussion
Sunday
7:30 am - 8:30 am	Breakfast
9:00 am - 11:00 am	Unraveling the Transcriptome, Proteome, and Metabolome Through Functional Genomics and Model Organisms Discussion Leader:
9:00 am - 9:15 am	"Genetic Regulatory Effects Modified by Immune Activation Contribute to Autoimmune Disease Associations"
9:15 am - 9:20 am	Discussion
9:20 am - 9:35 am	"Characterization of Novel Functions of DYRK1B in Myogenic Specification, Differentiation and Muscular Dystrophies"
9:35 am - 9:40 am	Discussion
9:40 am - 9:55 am	"Annotative Database of miRNA Elements, ADmiRE, Identifies the Landscape of Human miRNA Variation from the Genome Aggregation Dataset, gnomAD"
9:55 am - 10:00 am	Discussion
10:00 am - 10:15 am	"High-Throughput Screening Identifies the Type 2 Diabetes Risk Gene ZMIZ1 as a Key Regulator of Pancreatic Beta-Cell Function"
10:15 am - 10:20 am	Discussion
10:20 am - 10:35 am	"Facile and Fast Tool to Study Impact of Sequence Variation on RNA-Protein Interactions"
10:35 am - 10:40 am	Discussion
10:40 am - 10:55 am	"Mutations in the Condensin II Component NCAPG2 Cause Autosomal Recessive Neurodevelopmental Syndrome"
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: Philosophy of Science: From Scientific Methods to Communication and Mentoring the Next Generation of Scientists Discussion Leaders: and
1:30 pm - 1:55 pm	"Editorial Decision Making in High-Impact Science"
1:55 pm - 2:00 pm	Discussion
2:00 pm - 2:30 pm	Panel Discussion Career Planning in Science
2:30 pm - 3:00 pm	Evaluation Period Fill in GRS Evaluation Forms
3:00 pm	Seminar Concludes

Contributors

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Conference History Human Genetics and Genomics

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