Case for genome sequencing in infants and children with rare, undiagnosed or genetic diseases

Abstract excerpt

Up to 350 million people worldwide suffer from a rare disease, and while the individual diseases are rare, in aggregate they represent a substantial challenge to global health systems. The majority of rare disorders are genetic in origin, with children under the age of five disproportionately affected. As these conditions are difficult to identify clinically, genetic and genomic testing have become the backbone...

Topics

Share this publication in a Topic to start or enrich a Post.

• Share to Genetic factors in colorectal cancer
• Share to Genomic variations and chromosomal abnormalities
• Share to Genomics and Rare Diseases