Genomic Medicine XVI: Session 2 - Pathogen-First, Phenotype-First, and Sequence-First Approaches... скачать в хорошем качестве

Genomic Medicine XVI: Session 2 - Pathogen-First, Phenotype-First, and Sequence-First Approaches...

On December 12-13, 2024, the National Human Genome Research Institute (NHGRI) and the National Institute of Allergy and Infectious Diseases (NIAID) co-sponsored the 16th Genomic Medicine meeting, Host Genomics and Infectious Disease: Opportunities for Implementing Genomic Medicine, in Bethesda MD. The meeting aimed to identify needs, opportunities, and challenges for applying a patient’s genomic information (genome sequence, transcriptomic, epigenomic, etc. data) in the diagnosis, prevention, and treatment of infectious diseases. Persistent barriers and evidence gaps were examined as opportunities for additional research. Agenda: https://www.genome.gov/GM16 Chapters: 00:00 - Start 00:15 - Rare Infections - Disease Penetrance and Host Genetic Architecture (Dusan Bogunovic) 16:31 - Primary Immune Disorders and Specialized Infectious Testing (Scott Canna) 32:09 - NICU/PICU Sequencing and Variants Predisposing to Sepsis (Stephen Kingsmore) 47:07 - Session 2 Discussion