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 showcase new HiFi sequencing solutions developed to accelerate high-impact discovery in carrier and newborn screening research.

Watch the recording to learn how these new tools can enable you to:

  • Phase complete SMN1/SMN2 haplotypes, determine copy numbers, and make phased variant calls with Paraphase, a state-of-the art software tool for analyzing SMN1/SMN2 and other genes with stunning accuracy.
  • Study CYP21A2, HBA1/2 and GBA in unprecedented detail and consolidate legacy molecular methods (MLPA, Sanger, qPCR, blots, etc.) with targeted HiFi sequencing.
  • Get an overview of cutting-edge research approaches for tackling challenging variants in genes that are vital for understanding effective pre-conception genetic testing and newborn screening.

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Geoff Henno
Associate Director, Precision Health, PacBio
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Edd Lee
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