This fellowship opportunity supports research on applying long-read next-generation sequencing technologies to complement short-read approaches in newborn screening. The research focuses on characterizing gene deletions and complex haplotypes in challenging genomic regions to improve molecular assays for disorders such as Duchenne muscular dystrophy, spinal muscular atrophy, and hemoglobinopathies. Participants gain hands-on experience with sequencing platforms, bioinformatics, assay development, and quality improvement in a full-time, one-year appointment.
Applicants must be U.S. citizens or Lawful Permanent Residents with a doctoral degree in genetics, molecular biology, genomics, bioinformatics, or related fields earned within the past five years.