Research
The Scharfe lab is currently focused on technology development for screenable disorders in newborns, rapid genotyping of genomic variants to improve patient care, microhaplotype sequencing for population genetics and forensics, and multiplex capture and sequencing for viral nucleic acid testing.
Improved second-tier tools are needed to reduce false-positive outcomes in newborn screening for inborn metabolic disorders on the Recommended Universal Screening Panel (RUSP).
There are many circumstances where waiting for a clinical laboratory test result can lead to a missed opportunity to use the testing results to improve a patient’s care.
Microhaplotypes (microhaps, MH) are comprised of multiple single nucleotide polymorphisms (SNPs) that are located within 300 bases of genomic sequence.