Discovery of mutations for Mendelian disorders.

Abstract excerpt

Mendelian mutations are the most medically actionable variants in the human genome and have always played a central role in its functional annotation. Despite the relative ease with which Mendelian mutations are identified compared to other classes of variants, the pace of their discovery has until recently been slow. However, recent technological advances in genomic sequencing have made the prospect of...

Topics

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

• Share to Exome
• Share to Genetic Diseases, Inborn
• Share to Genetic Predisposition to Disease