Dr. Adam Jackson, MBChB, MSc, MRCP, will discuss autosomal recessive ectodermal dysplasia type 14 caused by biallelic variants in TSPEAR. He will discuss a newly described cohort of individuals with ARED14 and outline the main presenting features whilst also exploring the evolutionary origins of several TSPEAR founder variants which may explain their high frequency in present day Europeans.

Single-cell data provides unprecedented resolution within tissues to observe the gene-expression patterns in tissues, but it also produces mountains of data stored in hundreds of tables. Participants will explore the resources and learn how to filter data along the many dimensions.

David Higgins will present an overview of the Gabriella Miller Kids First Data Resource and its publicly-funded, free-to-access genomic and clinical datasets for research in pediatric cancer and structural birth defects. Attendees will follow along and be learn how to query the data, build virtual cohorts of participants, apply for access, build an analysis workflow, and analyze the data in an interactive notebook.

Dr. Pineda will discuss patterns of mosaicism discovered through clinical deep sequencing of disease-related genes in one million individuals.

This ASHG webinar will provide an outline of the different educational and career paths, and steps along those paths, that students at the middle or high school level can begin to pursue now, all with real examples from experts in the field.