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Phenomics Workshop Series

A series of conferences and community gatherings to coalesce phenomics informatics data structures, ontologies, algorithms, and tools.

Innovation across the Phenotypic Translational Divide Webinar - Part 2


Date Day Time (Pacific time) Time (Eastern time)
Sept 02, 2020 Wed 12pm - 3pm PT 3pm - 6pm ET

WebEx: Meeting Link
Audio connection:1-650-479-3208 Call-in toll number (US/Canada) Global call-in numbers
Meeting number/Access Code: 126 156 2165
Meeting password: Will be shared via the invitation


As more Kids First genomic datasets become accessible to the research community, it is becoming more apparent that deeper, harmonized clinical and phenotypic data will be critical to empower genetic discovery and cross-dataset analyses, which will ultimately lead to improved diagnostics and therapies. Some grant mechanisms such as NOT-DE-19-016 and RFA-RM-19-012 can be used to support such activities, but standards are needed to ensure that additional data collection efforts will lead to stronger Kids First datasets in the Data Resource. Many Kids First X01 investigators have the ability to re-contact study participants to collect deeper phenotype data, or they need guidance and resources to extract data from existing medical records, surveys, or other documents. As we build an increasingly diverse community of researchers around Kids First, key players including developmental biologists and tool developers, working alongside the Data Resource Center (DRC) and X01 investigators, can inform additional phenotyping and data collection efforts.


This event is co-planned by the Monarch Initiative and the Kids First Data Resource Center (DRC). Our goal is to improve phenotype data collection and harmonization of Kids First datasets (The Discovery of the Genetic Basis of Childhood Cancers and of Structural Birth Defects X01 cohorts) and generate a core/consensus set of clinical/phenotypic data elements that are extremely important for Kids First childhood cancer and structural birth defects datasets, and potential overlapping etiologies of these conditions. Another goal is to brainstorm ideas for developing tools and resources for collecting deeper (in some cases disease- or modality- specific) data that will be valuable for increasing understanding of individual pediatric conditions. Kids First X01 investigators, developmental biologists, ontologists, and tool developers will be brought together to inform this process.


Time (Pacific time) Time (Eastern time) Duration Topic Speaker
12:00pm 3:00pm 10 min Introductions Valerie Cotton and Nicole Vasilevsky
12:10pm 3:10pm 10 min Kids First Phenotyping Deanne Taylor
12:20pm 3:20pm 10 min Kidney and Urinary Tract Defects Ali Gharavi
12:30pm 3:30pm 10 min Structural birth defects and childhood cancer Xiang Wang
12:40pm 3:40pm 10 min Neuroblastoma Sharon Diskin
12:50pm 3:50pm 10 min Questions + Discussion  
1:00pm 4:00pm 10 min Break  
1:10pm 4:10pm 10 min CHARGE syndrome Donna Martin
1:20pm 4:20pm 10 min Laterality Birth Defects Stephanie Ware
1:30pm 4:30pm 10 min Structural Brain Defects, Neural Tube Defects Joe Gleeson
1:40pm 4:40pm 10 min Questions + Discussion  
1:50pm 4:50pm 10 min Break  
2:00pm 5:00pm 50 min Brainstorming session and Portal demo to inform discussion Nicole Vasilevsky and Allison Heath
2:50pm 5:50pm 10 min Closing Statements: Where are we going? Adam Resnick
3:00pm 6:00pm Adjourn    


Part 1 Webinar:

Part 2 Webinar:

Part 3 Webinar: