This webinar, on behalf of the Association of Public Health Laboratories' (APHL) Health Information Technology (HIT) Newborn Screening Workgroup, provides an overview of bioinformatics at multiple
levels, with newborn screening (NBS) as a use case. Participants will hear from two bioinformatics professionals working with state newborn screening programs.
• Explain and be able to define bioinformatics
• Know how bioinformatics can impact NBS
• Identify the steps within a Next Generation Sequencing (NGS) analysis pipeline for genomic variant discovery
• Identify the importance of genomic variant databases with regard to variant interpretation
• Identify infrastructure challenges associated with implementing NGS in NBS
This program is intended for anyone who works in or supervises a public health or clinical laboratory, including clinical and public health laboratory staff, bioinformatics or HIT professionals, other laboratory workers and members of the newborn screening system and research scientists.