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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

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