February 21, 2023  |  Educational video

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.

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