Clinical Interpretation of Genes and Variants for Disease Causality - MPG Primer 2022

Explore the complexities of clinical interpretation for genes and variants in disease causality through this comprehensive lecture by renowned human geneticist and genomic medicine researcher, Heidi Rehm. Delve into the latest approaches for integrating genomics into medical practice, including standardized methods for interpreting sequence variants. Learn about the Clinical Genome Resource (ClinGen) project, which provides free and publicly accessible resources for gene and variant interpretation. Discover the importance of open science and data sharing in advancing genomic research, including initiatives like the Matchmaker Exchange for gene discovery and the Genome Aggregation Database (gnomAD). Gain insights into the challenges and innovations in genomic testing for clinical and research applications, as well as the efforts to return results to large-scale cohorts like the All of Us Research Program. This primer, part of the Broad Institute's series on Medical and Population Genetics, offers an invaluable introduction to the field for research technicians, graduate students, postdoctoral fellows, and established investigators entering the domain of complex trait genetics and human disease.