Data Mining

Newborn Screening

Using data mining and target DNA sequence to improve newborn screening

Combining newborn metabolic and DNA analysis for second- tier testing of methylmalonic acidemia

**Purpose:** Improved second-tier tools are needed to reduce false- positive outcomes in newborn screening (NBS) for inborn metabolic disorders on the Recommended Universal Screening Panel (RUSP). **Methods:** We designed an assay for multiplex …