Project Description

This project relies on “Establishing an affordable, secured research cloud solution for large-scale computing against COVID-19 healthcare data” core project. The BCH Children's Rare Disease Cohorts initiative (CRDC) is an integrative research and clinical genomics initiative that has combined genomic, phenotypic and research registry data from 15 pediatric rare disease cohorts in a genomic learning system (GLS). The GLS integrates analytical systems, including machine learning algorithms for automated variant classification and prioritization as well as phenotype extraction via natural language processing (NLP) of clinical notes. This GLS is extensible to additional analytic systems and growing research and clinical collections of genomic and other types of data. In response to the COVID-19 pandemic, we are in the process of including a COVID-19 positive severe pediatric response cohort in the initiative and GLS for analysis by clinicians and researchers.