Tackling challenging genes and their paralogs involved in recessive disorders

Effective carrier and newborn screening methods are critical for solving problems in reproductive medicine and launching treatment plans for early-onset genetic diseases. Clinical research faces a number of well-known challenges to disentangle the complexity of the underlying disease genetics. In this exciting webinar, PacBio scientists will showcase new HiFi sequencing solutions developed to accelerate high-impact discovery in carrier and newborn screening research, including Paraphase, a state-of-the-art software tool for analyzing SMN1/SMN2 and other genes with stunning accuracy.