Whole-Genome Sequencing, Aided by Bioinformatics Analytical Software, Offers Quick, Accurate Test for Diagnosing Diseases Caused by Single-Gene Mutations

A new approach to genetic testing of critically ill children, developed by researchers at Children’s Mercy Hospital, can be a road map other medical laboratories can follow   In Kansas City, a medical team at Children’s Mercy Hospital has demonstrated that rapid whole human genome sequencing, when combined with interpretative software, can return clinically actionable answers quickly enough to be of value to physicians who are diagnosing patients showing symptoms of genetic conditions. As many...