Category: rare pathogenic variants

Population Screening for Rare Pathogenic Variants as the Low Hanging Fruit for Public Health Genomics Across the Lifespan

Rapid advances in human genome sequencing technologies have accelerated the integration of genomics into clinical practice. Genomics has demonstrated clinical utility as a diagnostic tool for certain diseases, but its potential for population screening is still work in progress. In principle, DNA-based population screening can identify persons with rare pathogenic variants who are at high Read More >