News on research and diagnostics for metabolic disorders and metabolic diseases.
Weill Cornell Medicine, New York-Presbyterian Hospital, and the New York Genome Center will join Illumina to sequence the genomes of thousands of patients.
The companies are currently working together to commercialize their respective products including genetic tests for type 2 diabetes and gestational diabetes risk.
Sequencing-based newborn screening could not identify all children with metabolic disorders or hearing loss, but could interrogate a larger number of conditions.
Exome sequencing had lower sensitivity and specificity for finding inborn errors of metabolism than conventional screening, but appeared to refine mass spec-based results.
Analyzing genetic and metabolic data for nearly 16,100 individuals with phenylketonuria, investigators identified disease severity and genotyping gradients, along with predictive clues.
