Web Desc
Beyond a Million Genomes: From Discovery to Precision Health
Organizer(s): Alan R. Shuldiner, Dan M. Roden and Elaine R. Mardis
Date: January 21 - 25, 2020
Location: Beaver Run Resort, Breckenridge, CO, USA
Sponsored by Editas Medicine and Novo Nordisk A/S
Summary of Meeting:
With advances and decreasing costs of high-throughput genotyping and DNA sequencing technologies, we now know more about the human genome than that of any other species. Sequence variation, both common and rare, contribute to great inter-individual phenotypic variation within it. A deeper understanding of the genetic basis of human health and disease has provided insights into biology and huge opportunities for the development and implementation of more targeted therapies and preventive strategies, which is the goal of precision health. This Keystone Symposium will focus on rapidly advancing and emerging areas of precision health with each session emphasizing the path from discovery to clinical implementation. The Symposium will begin with the state of our current knowledge of the allelic architecture of human disease and how these understandings are being translated into clinical practice. Sessions will cover discovery and translational advances from Mendelian diseases and rare human gene knock-outs to common multifactorial diseases in large genomic databases linked to electronic health record data, and the challenges and opportunities of big data analysis and integration. Other topics will include translating cancer genomics to clinical practice, workshops on clinical interpretation of germline and somatic mutations, pharmacogenomics, and the role of human genomics for novel therapeutic development. Finally, a session will look beyond human sequence variation to consider the role of epigenomics, the microbiome, and environment and lifestyle in precision health. While broad-based, a unifying theme of this Symposium is to bridge basic human genomic discovery to clinical implementation with the intention of attracting and engaging a multidisciplinary audience for thoughtful and open discussion to impact Precision Health.
Scholarship Deadline: October 10 2019
Discounted Abstract Deadline: October 10 2019
Abstract Deadline: October 22 2019
Discounted Registration Deadline: November 21 2019
Keystone Symposia thanks our Sponsor(s) for generously supporting this meeting:
Editas MedicineNovo Nordisk A/S
We gratefully acknowledge additional in-kind support for this conference from those foregoing speaker expense reimbursements:

Fabric Genomics

Verily
We gratefully acknowledge the generous grant for this conference provided by:

National Human Genome Research Institute (NHGRI)
Grant No. 1R13HG010827-01
Funding for this conference was made possible (in part) by 1R13HG010827-01 from the National Institutes of Health. The views expressed in written conference materials or publications and by speakers and moderators do not necessarily reflect the official policies of the Department of Health and Human Services; nor does mention of trade names, commercial practices, or organizations imply endorsement by the U.S. Government.
We appreciate the organizations that provide Keystone Symposia with additional support, such as marketing and advertising:

Click here to view more of these organizations
Special thanks to the following for their support of Keystone Symposia initiatives to increase participation at this meeting by scientists from underrepresented backgrounds:

Click here to view more of these organizations

Program

Tuesday, January 21 | 4:00PM - 8:00PM
Arrival and Registration
Room: Colorado Ballroom Foyer


Tuesday, January 21 | 6:00PM - 8:00PM
Welcome Mixer
Room: Colorado Ballroom Foyer
No registration fees are used to fund alcohol served at this function.

Wednesday, January 22 | 7:00AM - 8:00AM
Breakfast
Room: Summit Gallery


Wednesday, January 22 | 8:00AM - 9:00AM
Welcome and Keynote Address
Room: Peaks 4 & 5

Speaker 1 of 2
* Alan R. Shuldiner, Regeneron Pharmaceuticals, Inc, USA

Wednesday, January 22 | 8:00AM - 9:00AM
Welcome and Keynote Address
Room: Peaks 4 & 5

Speaker 2 of 2
Peter Donnelly, University of Oxford and Genomics plc, UK
Using Genomics to Understand an Individual's Risk for Common Diseases

Wednesday, January 22 | 9:00AM - 11:30AM
Undiagnosed and Underdiagnosed Mendelian Diseases
Room: Peaks 4 & 5

Speaker 1 of 7
* Eimear E. Kenny, Icahn School of Medicine at Mount Sinai, USA

Wednesday, January 22 | 9:00AM - 11:30AM
Undiagnosed and Underdiagnosed Mendelian Diseases
Room: Peaks 4 & 5

Speaker 2 of 7
Wendy K. Chung, Columbia University, USA
Horses Morphing into Zebras: Hundreds of Rare Monogenic Diseases Masquerading As Common Diseases

Wednesday, January 22 | 9:00AM - 11:30AM
Undiagnosed and Underdiagnosed Mendelian Diseases
Room: Peaks 4 & 5


Coffee Break

Wednesday, January 22 | 9:00AM - 11:30AM
Undiagnosed and Underdiagnosed Mendelian Diseases
Room: Peaks 4 & 5

Speaker 4 of 7
Lisa Bastarache, Vanderbilt University Medical Center, USA
EHR Phenomics and Undiagnosed Mendelian Diseases

Wednesday, January 22 | 9:00AM - 11:30AM
Undiagnosed and Underdiagnosed Mendelian Diseases
Room: Peaks 4 & 5

Speaker 5 of 7
Kevin A. Strauss, Clinic for Special Children, USA
Plain People and Precision Medicine

Wednesday, January 22 | 9:00AM - 11:30AM
Undiagnosed and Underdiagnosed Mendelian Diseases
Room: Peaks 4 & 5

Speaker 6 of 7
Bryce A. Schuler, Vanderbilt University Medical Center, USA
Short Talk: Identifying Undiagnosed Alpha-1 Antitrypsin Deficiency and Environmental Disease Modifiers via Phenotype Risk Score

Wednesday, January 22 | 9:00AM - 11:30AM
Undiagnosed and Underdiagnosed Mendelian Diseases
Room: Peaks 4 & 5

Speaker 7 of 7
Margot A. Cousin, Mayo Clinic, USA
Short Talk: Patient-Specific Antisense Oligonucleotide Therapeutic Development for a Girl with Mucolipidosis


Wednesday, January 22 | 11:30AM - 5:00PM
On Own for Lunch


Wednesday, January 22 | 11:30AM - 1:00PM
Poster Setup
Room: Peaks 1-3


Wednesday, January 22 | 1:00PM - 10:00PM
Poster Viewing
Room: Peaks 1-3


Wednesday, January 22 | 2:30PM - 4:30PM
Career Roundtable
Room: Peaks 6-8
Interested participants must sign up at the registration desk on a first-come, first-serve basis.
Maximum attendance: 60.
Speaker 1 of 7
Dan M. Roden, Vanderbilt University Medical Center, USA

Wednesday, January 22 | 2:30PM - 4:30PM
Career Roundtable
Room: Peaks 6-8
Interested participants must sign up at the registration desk on a first-come, first-serve basis.
Maximum attendance: 60.
Speaker 2 of 7
Elaine R. Mardis, Nationwide Children's Hospital, USA

Wednesday, January 22 | 2:30PM - 4:30PM
Career Roundtable
Room: Peaks 6-8
Interested participants must sign up at the registration desk on a first-come, first-serve basis.
Maximum attendance: 60.
Speaker 3 of 7
Kevin A. Strauss, Clinic for Special Children, USA

Wednesday, January 22 | 2:30PM - 4:30PM
Career Roundtable
Room: Peaks 6-8
Interested participants must sign up at the registration desk on a first-come, first-serve basis.
Maximum attendance: 60.
Speaker 4 of 7
Olga Kamneva, Roche Sequencing Solutions, USA

Wednesday, January 22 | 2:30PM - 4:30PM
Career Roundtable
Room: Peaks 6-8
Interested participants must sign up at the registration desk on a first-come, first-serve basis.
Maximum attendance: 60.
Speaker 5 of 7
Paola Giusti-Rodríguez, University of North Carolina at Chapel Hill, USA

Wednesday, January 22 | 2:30PM - 4:30PM
Career Roundtable
Room: Peaks 6-8
Interested participants must sign up at the registration desk on a first-come, first-serve basis.
Maximum attendance: 60.
Speaker 6 of 7
Ben Johnson, Nature Research, UK

Wednesday, January 22 | 2:30PM - 4:30PM
Career Roundtable
Room: Peaks 6-8
Interested participants must sign up at the registration desk on a first-come, first-serve basis.
Maximum attendance: 60.
Speaker 7 of 7
Aaron Pawlyk, Eunice Kennedy Shriver National Institute of Child Health and Human Development, USA

Wednesday, January 22 | 4:30PM - 5:00PM
Coffee Available
Room: Colorado Ballroom Foyer


Wednesday, January 22 | 5:00PM - 7:00PM
Genetic Variation to Mechanisms of Human Disease
Room: Peaks 4 & 5

Speaker 1 of 6
* Wendy K. Chung, Columbia University, USA

Wednesday, January 22 | 5:00PM - 7:00PM
Genetic Variation to Mechanisms of Human Disease
Room: Peaks 4 & 5

Speaker 2 of 6
Eimear E. Kenny, Icahn School of Medicine at Mount Sinai, USA
Using Cryptic Relatedness for Gene Discovery

Wednesday, January 22 | 5:00PM - 7:00PM
Genetic Variation to Mechanisms of Human Disease
Room: Peaks 4 & 5

Speaker 3 of 6
Douglas M. Fowler, University of Washington, USA
Multiplex Experimental Approaches to Understanding Genetic Variation

Wednesday, January 22 | 5:00PM - 7:00PM
Genetic Variation to Mechanisms of Human Disease
Room: Peaks 4 & 5

Speaker 4 of 6
Monkol Lek, Yale School of Medicine, USA
Genetic Diagnosis to Custom Genetic Therapy

Wednesday, January 22 | 5:00PM - 7:00PM
Genetic Variation to Mechanisms of Human Disease
Room: Peaks 4 & 5

Speaker 5 of 6
Andrew M. Glazer, Vanderbilt University Medical Center, USA
Short Talk: High-Throughput Functional Studies of SCN5A Variants

Wednesday, January 22 | 5:00PM - 7:00PM
Genetic Variation to Mechanisms of Human Disease
Room: Peaks 4 & 5

Speaker 6 of 6
Amrita Basu, University of California, San Francisco, USA
Short Talk: Discovering Biomarkers of Extreme Resistance in High-Risk Breast Cancer


Wednesday, January 22 | 7:00PM - 8:00PM
Social Hour with Lite Bites
Room: Peaks 1-3
No registration fees are used to fund alcohol served at this function.

Wednesday, January 22 | 7:30PM - 10:00PM
Poster Session 1
Room: Peaks 1-3


Thursday, January 23 | 7:00AM - 8:00AM
Breakfast
Room: Summit Gallery


Thursday, January 23 | 8:00AM - 11:00AM
Genome and EHR-Derived Phenomes in Large Patient Populations
: Discovery and Implementation of Precision Health

Room: Peaks 4 & 5

Speaker 1 of 8
* Dan M. Roden, Vanderbilt University Medical Center, USA

Thursday, January 23 | 8:00AM - 11:00AM
Genome and EHR-Derived Phenomes in Large Patient Populations
: Discovery and Implementation of Precision Health

Room: Peaks 4 & 5

Speaker 2 of 8
Kathleen Barnes, University of Colorado Denver, USA
Implementing Personalized Medicine in the Academic Medical Setting: The Colorado Center for Personalized Medicine Experience

Thursday, January 23 | 8:00AM - 11:00AM
Genome and EHR-Derived Phenomes in Large Patient Populations
: Discovery and Implementation of Precision Health

Room: Peaks 4 & 5

Speaker 3 of 8
Stephanie Devaney, National Institutes of Health, USA
All of Us

Thursday, January 23 | 8:00AM - 11:00AM
Genome and EHR-Derived Phenomes in Large Patient Populations
: Discovery and Implementation of Precision Health

Room: Peaks 4 & 5


Coffee Break

Thursday, January 23 | 8:00AM - 11:00AM
Genome and EHR-Derived Phenomes in Large Patient Populations
: Discovery and Implementation of Precision Health

Room: Peaks 4 & 5

Speaker 5 of 8
Lili Milani, University of Tartu, Estonia
Personalized Medicine Based on Common and Rare Genetic Variants in Estonia

Thursday, January 23 | 8:00AM - 11:00AM
Genome and EHR-Derived Phenomes in Large Patient Populations
: Discovery and Implementation of Precision Health

Room: Peaks 4 & 5

Speaker 6 of 8
David H. Ledbetter, Geisinger Health, USA
Geisinger's Genomics and Precision Health Imperative

Thursday, January 23 | 8:00AM - 11:00AM
Genome and EHR-Derived Phenomes in Large Patient Populations
: Discovery and Implementation of Precision Health

Room: Peaks 4 & 5

Speaker 7 of 8
Manuel A. Rivas, Stanford University, USA
Short Talk: Global Meta-Analysis of UK Biobank, Million Veterans Program, and Biobank Japan

Thursday, January 23 | 8:00AM - 11:00AM
Genome and EHR-Derived Phenomes in Large Patient Populations
: Discovery and Implementation of Precision Health

Room: Peaks 4 & 5

Speaker 8 of 8
Todd Edwards, Vanderbilt University Medical Center, USA
Short Talk: Leveraging T2D GWAS with 1.3M Subjects and Large EHR Resources to Identify and Evaluate Drugs for Repurposing


Thursday, January 23 | 11:00AM - 5:00PM
On Own for Lunch


Thursday, January 23 | 11:00AM - 1:00PM
Poster Setup
Room: Peaks 1-3


Thursday, January 23 | 1:00PM - 10:00PM
Poster Viewing
Room: Peaks 1-3


Thursday, January 23 | 2:30PM - 4:30PM
Panel: Equity in Health and Healthcare: Considerations of Ra
ce/Ethnicity in Precision Medicine
Room: Peaks 4 & 5
This workshop will include discussions on the current and historical implementation of precision medicine (pharmacogenomics, genomics, and environmental/behavioral factors), ethical and policy considerations in utilizing race/ethnicity in clinical care, future direction in precision medicine. The outcome from this workshop is expected to be the development of recommendations and a vision of how precision medicine can be implemented in diverse populations. This workshop is supported in part by the Burroughs Wellcome Fund.
Speaker 1 of 5
* Nishadi Rajapakse, National Institutes of Health, USA

Thursday, January 23 | 2:30PM - 4:30PM
Panel: Equity in Health and Healthcare: Considerations of Ra
ce/Ethnicity in Precision Medicine
Room: Peaks 4 & 5
This workshop will include discussions on the current and historical implementation of precision medicine (pharmacogenomics, genomics, and environmental/behavioral factors), ethical and policy considerations in utilizing race/ethnicity in clinical care, future direction in precision medicine. The outcome from this workshop is expected to be the development of recommendations and a vision of how precision medicine can be implemented in diverse populations. This workshop is supported in part by the Burroughs Wellcome Fund.
Speaker 2 of 5
Stephanie Devaney, National Institutes of Health, USA

Thursday, January 23 | 2:30PM - 4:30PM
Panel: Equity in Health and Healthcare: Considerations of Ra
ce/Ethnicity in Precision Medicine
Room: Peaks 4 & 5
This workshop will include discussions on the current and historical implementation of precision medicine (pharmacogenomics, genomics, and environmental/behavioral factors), ethical and policy considerations in utilizing race/ethnicity in clinical care, future direction in precision medicine. The outcome from this workshop is expected to be the development of recommendations and a vision of how precision medicine can be implemented in diverse populations. This workshop is supported in part by the Burroughs Wellcome Fund.
Speaker 3 of 5
Michael P. Snyder, Stanford University School of Medicine, USA

Thursday, January 23 | 2:30PM - 4:30PM
Panel: Equity in Health and Healthcare: Considerations of Ra
ce/Ethnicity in Precision Medicine
Room: Peaks 4 & 5
This workshop will include discussions on the current and historical implementation of precision medicine (pharmacogenomics, genomics, and environmental/behavioral factors), ethical and policy considerations in utilizing race/ethnicity in clinical care, future direction in precision medicine. The outcome from this workshop is expected to be the development of recommendations and a vision of how precision medicine can be implemented in diverse populations. This workshop is supported in part by the Burroughs Wellcome Fund.
Speaker 4 of 5
Melinda C. Aldrich, Vanderbilt University Medical Center, USA

Thursday, January 23 | 2:30PM - 4:30PM
Panel: Equity in Health and Healthcare: Considerations of Ra
ce/Ethnicity in Precision Medicine
Room: Peaks 4 & 5
This workshop will include discussions on the current and historical implementation of precision medicine (pharmacogenomics, genomics, and environmental/behavioral factors), ethical and policy considerations in utilizing race/ethnicity in clinical care, future direction in precision medicine. The outcome from this workshop is expected to be the development of recommendations and a vision of how precision medicine can be implemented in diverse populations. This workshop is supported in part by the Burroughs Wellcome Fund.
Speaker 5 of 5
Digna R. Velez Edwards, Vanderbilt University Medical Center, USA

Thursday, January 23 | 4:30PM - 5:00PM
Coffee Available
Room: Colorado Ballroom Foyer


Thursday, January 23 | 5:00PM - 7:00PM
Challenges of Big Data Integration in Genomics and Precision
Medicine

Room: Peaks 4 & 5

Speaker 1 of 5
* Philip F. Smith, NIDDK, National Institutes of Health, USA

Thursday, January 23 | 5:00PM - 7:00PM
Challenges of Big Data Integration in Genomics and Precision
Medicine

Room: Peaks 4 & 5

Speaker 2 of 5
David Glazer, Verily Life Sciences, USA
Talk Title to be Announced

Thursday, January 23 | 5:00PM - 7:00PM
Challenges of Big Data Integration in Genomics and Precision
Medicine

Room: Peaks 4 & 5

Speaker 3 of 5
Garry P. Nolan, Stanford University, USA
Pathology from the Molecular Scale on Up

Thursday, January 23 | 5:00PM - 7:00PM
Challenges of Big Data Integration in Genomics and Precision
Medicine

Room: Peaks 4 & 5

Speaker 4 of 5
Josh Bonkowsky, University of Utah, USA
Short Talk: Pediatric Personalized Population Health: Integrating Genomic Testing and Data with Longitudinal Pediatric Clinical Outcomes and Treatments in a Free-Standing Children’s Hospital

Thursday, January 23 | 5:00PM - 7:00PM
Challenges of Big Data Integration in Genomics and Precision
Medicine

Room: Peaks 4 & 5

Speaker 5 of 5
Alex Forrest-Hay, Metabolon Inc., USA
Short Talk: Use of Untargeted Metabolomics to Categorize Disease Risk in Human Health Studies Accelerates Precision Medicine and Drug Development

Thursday, January 23 | 7:00PM - 8:00PM
Social Hour with Lite Bites
Room: Peaks 1-3
No registration fees are used to fund alcohol served at this function.

Thursday, January 23 | 7:30PM - 10:00PM
Poster Session 2
Room: Peaks 1-3


Friday, January 24 | 7:00AM - 8:00AM
Breakfast
Room: Summit Gallery


Friday, January 24 | 8:00AM - 11:00AM
Translating Cancer Genomics to Clinical Practice
Room: Peaks 4 & 5

Speaker 1 of 7
* Martin G. Reese, Fabric Genomics, USA

Friday, January 24 | 8:00AM - 11:00AM
Translating Cancer Genomics to Clinical Practice
Room: Peaks 4 & 5

Speaker 2 of 7
Elaine R. Mardis, Nationwide Children's Hospital, USA
Integrating Genomics into Precision Cancer Medicine

Friday, January 24 | 8:00AM - 11:00AM
Translating Cancer Genomics to Clinical Practice
Room: Peaks 4 & 5

Speaker 3 of 7
Dejan Juric, Massachusetts General Hospital, USA
Talk Title to be Announced

Friday, January 24 | 8:00AM - 11:00AM
Translating Cancer Genomics to Clinical Practice
Room: Peaks 4 & 5


Coffee Break

Friday, January 24 | 8:00AM - 11:00AM
Translating Cancer Genomics to Clinical Practice
Room: Peaks 4 & 5

Speaker 5 of 7
Katherine Janeway, Dana-Farber Cancer Institute, USA
Defining the Clinical Impact of Bringing Genomics to the Pediatric Oncology Clinic

Friday, January 24 | 8:00AM - 11:00AM
Translating Cancer Genomics to Clinical Practice
Room: Peaks 4 & 5

Speaker 6 of 7
Gerald P. Linette, University of Pennsylvania, USA
Personalized Cancer Vaccines

Friday, January 24 | 8:00AM - 11:00AM
Translating Cancer Genomics to Clinical Practice
Room: Peaks 4 & 5

Speaker 7 of 7
Xiaoyan Jia, University of Michigan, USA
Short Talk: Comprehensive Functional Classification of Lynch Syndrome Missense Variants

Friday, January 24 | 11:00AM - 5:00PM
On Own for Lunch


Friday, January 24 | 11:00AM - 1:00PM
Poster Setup
Room: Peaks 1-3


Friday, January 24 | 1:00PM - 10:00PM
Poster Viewing
Room: Peaks 1-3


Friday, January 24 | 4:30PM - 5:00PM
Coffee Available
Room: Colorado Ballroom Foyer


Friday, January 24 | 5:00PM - 6:15PM
Round Table Discussion: Academia - Industry Collaboration to
Enable Genomic Discovery and Implementation of Precision Medicine
Room: Peaks 4 & 5

Speaker 1 of 4
* Alan R. Shuldiner, Regeneron Pharmaceuticals, Inc, USA

Friday, January 24 | 5:00PM - 6:15PM
Round Table Discussion: Academia - Industry Collaboration to
Enable Genomic Discovery and Implementation of Precision Medicine
Room: Peaks 4 & 5

Speaker 2 of 4
Martin G. Reese, Fabric Genomics, USA

Friday, January 24 | 5:00PM - 6:15PM
Round Table Discussion: Academia - Industry Collaboration to
Enable Genomic Discovery and Implementation of Precision Medicine
Room: Peaks 4 & 5

Speaker 3 of 4
Pakito Martinez, Metabolon, USA

Friday, January 24 | 5:00PM - 6:15PM
Round Table Discussion: Academia - Industry Collaboration to
Enable Genomic Discovery and Implementation of Precision Medicine
Room: Peaks 4 & 5

Speaker 4 of 4
Patrick Kleyn, Rhythm Pharmaceuticals, USA

Friday, January 24 | 6:15PM - 7:00PM
Keynote Address
Room: Peaks 4 & 5

Speaker 1 of 2
* Elaine R. Mardis, Nationwide Children's Hospital, USA

Friday, January 24 | 6:15PM - 7:00PM
Keynote Address
Room: Peaks 4 & 5

Speaker 2 of 2
Michael P. Snyder, Stanford University School of Medicine, USA
Big Data and Health

Friday, January 24 | 7:00PM - 8:00PM
Social Hour with Lite Bites
Room: Peaks 1-3
No registration fees are used to fund alcohol served at this function.

Friday, January 24 | 7:30PM - 10:00PM
Poster Session 3
Room: Peaks 1-3


Saturday, January 25 | 7:00AM - 8:00AM
Breakfast
Room: Summit Gallery


Saturday, January 25 | 8:00AM - 11:00AM
Pharmacogenomics: Beyond Single Large Effect Size Variants a
nd Implementation

Room: Peaks 4 & 5

Speaker 1 of 6
* Aaron Pawlyk, Eunice Kennedy Shriver National Institute of Child Health and Human Development, USA

Saturday, January 25 | 8:00AM - 11:00AM
Pharmacogenomics: Beyond Single Large Effect Size Variants a
nd Implementation

Room: Peaks 4 & 5

Speaker 2 of 6
Dan M. Roden, Vanderbilt University Medical Center, USA
Challenges and Opportunities in Implementing Pharmacogenomics

Saturday, January 25 | 8:00AM - 11:00AM
Pharmacogenomics: Beyond Single Large Effect Size Variants a
nd Implementation

Room: Peaks 4 & 5

Speaker 3 of 6
Wasun Chantratita, Mahidol University, Thailand
National Program to Eradicate Stevens Johnson Syndrome from Thailand to Asian Countries

Saturday, January 25 | 8:00AM - 11:00AM
Pharmacogenomics: Beyond Single Large Effect Size Variants a
nd Implementation

Room: Peaks 4 & 5


Coffee Break

Saturday, January 25 | 8:00AM - 11:00AM
Pharmacogenomics: Beyond Single Large Effect Size Variants a
nd Implementation

Room: Peaks 4 & 5

Speaker 5 of 6
Esteban E. Burchard, University of California, San Francisco, USA
Making Precision Medicine Socially Precise

Saturday, January 25 | 8:00AM - 11:00AM
Pharmacogenomics: Beyond Single Large Effect Size Variants a
nd Implementation

Room: Peaks 4 & 5

Speaker 6 of 6
Katelyn Neely, Vanderbilt University, USA
Short Talk: CYP2C19 Phenotype and Adverse Events During Sertraline Treatment in Children and Adolescents


Saturday, January 25 | 11:00AM - 5:00PM
On Own for Lunch


Saturday, January 25 | 3:00PM - 4:30PM
Workshop
Room: Peaks 4 & 5

Speaker 1 of 7
* Katelyn Neely, Vanderbilt University, USA

Saturday, January 25 | 3:00PM - 4:30PM
Workshop
Room: Peaks 4 & 5

Speaker 2 of 7
Andrew R. Marderstein, Weill Cornell Medicine, USA
Leveraging Phenotypic Variability to Identify Genetic Interactions and Improve Prediction of Complex Traits

Saturday, January 25 | 3:00PM - 4:30PM
Workshop
Room: Peaks 4 & 5

Speaker 3 of 7
Angela Mo, Georgia Institute of Technology, USA
African Ancestry Proportion Influences Ileal Gene Expression in Inflammatory Bowel Disease

Saturday, January 25 | 3:00PM - 4:30PM
Workshop
Room: Peaks 4 & 5

Speaker 4 of 7
Arbel Harpak, Columbia University, USA
Variable Prediction Accuracy of Polygenic Scores within an Ancestry Group

Saturday, January 25 | 3:00PM - 4:30PM
Workshop
Room: Peaks 4 & 5

Speaker 5 of 7
Jacob M. Keaton, Vanderbilt University Medical Center, USA
Phenome-Wide Association Study of Biogeographic Ancestries Builds an Atlas of Racial Health Disparities

Saturday, January 25 | 3:00PM - 4:30PM
Workshop
Room: Peaks 4 & 5

Speaker 6 of 7
Ayesha Muhammad, Vanderbilt University, USA
A High-Throughput Cell-Surface Trafficking Assay of KCNE1 Can Identify Functionally Deleterious Variants

Saturday, January 25 | 3:00PM - 4:30PM
Workshop
Room: Peaks 4 & 5

Speaker 7 of 7
Megan Lynch, University of Maryland, Baltimore, USA
Assessing the Burden of Pathogenic Variants in ACMG Clinically Actionable Genes in the Amish

Saturday, January 25 | 4:30PM - 5:00PM
Coffee Available
Room: Colorado Ballroom Foyer


Saturday, January 25 | 5:00PM - 6:45PM
Beyond Human Sequence Variation
Room: Peaks 4 & 5

Speaker 1 of 5
* Christa L. Martin, Geisinger Health, USA

Saturday, January 25 | 5:00PM - 6:45PM
Beyond Human Sequence Variation
Room: Peaks 4 & 5

Speaker 2 of 5
Beth Drolet, University of Wisconsin, USA
Organ With A View; Birthmarks as a Model of Mosaicism

Saturday, January 25 | 5:00PM - 6:45PM
Beyond Human Sequence Variation
Room: Peaks 4 & 5

Speaker 3 of 5
Alan R. Shuldiner, Regeneron Pharmaceuticals, Inc, USA
Beyond Identification of Human Sequence Variation: Genome-Informed Therapeutic Development and the Implementation of Population Precision Health

Saturday, January 25 | 5:00PM - 6:45PM
Beyond Human Sequence Variation
Room: Peaks 4 & 5

Speaker 4 of 5
Digna R. Velez Edwards, Vanderbilt University Medical Center, USA
Short Talk: Association of Genetically-Predicted Placental Gene Expression with Adult Obesity and Blood Pressure Traits

Saturday, January 25 | 5:00PM - 6:45PM
Beyond Human Sequence Variation
Room: Peaks 4 & 5

Speaker 5 of 5
Wen Gu, University of Texas Southwestern Medical Center, USA
Short Talk: Investigating the Mechanism and Consequences of 2-Hydroxyglutarate Accumulation in Patients with Neurological Abnormalities

Saturday, January 25 | 6:45PM - 7:00PM
Meeting Wrap-Up: Outcomes and Future Directions (Organizers)
Room: Peaks 4 & 5


Saturday, January 25 | 7:00PM - 8:00PM
Social Hour with Lite Bites
Room: Peaks 1-3
No registration fees are used to fund alcohol served at this function.

Sunday, January 26 | 10:24AM - 10:24AM
Departure


*Session Chair.