View on GitHub

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 1


Date Day Time (Pacific time) Time (Eastern time)
April 09, 2020 Thursday 10am - 1pm PT 1pm - 4pm ET

Click here to join the meeting. No registration needed.


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) Topic Speaker
10:00am 1:00pm Introductions Valerie Cotton and Nicole Vasilevsky
10:05am 1:05pm The importance of phenotype data depth, harmonization for “translational discovery”. Melissa Haendel
10:15am 1:15pm Use case - What can be done in the Kids First Portal with good phenotype data Adam Resnick
10:25am 1:25pm Pediatric Cardiac Genomics Consortium (PCGC) Betsy Goldmuntz
10:35am 1:35pm DS-Congenital Heart Disease Joaquin Espinosa
10:45am 1:45pm Neuropsychological Data Harmonization Stephanie Sherman
10:55am 1:55pm DS-ALL & Rhabdomyosarcoma Philip Lupo
11:05am 2:05pm Break  
11:15am 2:15pm Enchondromatoses and Related Malignant Tumors Nara Sobreira
11:25am 2:25pm Orofacial Clefts Mary Marazita
11:35am 2:35pm Adolescent Idiopathic Scoliosis Carole Wise
11:45am 2:45pm Cornelia de Lange Syndrome Sarah Raible
11:55am 2:55pm Questions  
12:05pm 3:05pm Break  
12:15pm 3:15pm Summary of survey results Deanne Taylor
12:25pm 3:25pm DRC data harmonization process to the Kids First portal Allison Heath
12:35pm 3:35pm NIH Perspective James Coulombe, NICHD
12:40pm 3:40pm Brainstorming session and discussion Led by Melissa Haendel


Part 2 Webinar:

Part 3 Webinar: