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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Speakers

Geoff Henno
Associate Director, Precision Health, PacBio
Long reads provide a shortcut to sequencing challenging regions without compromise

Xiao Chen, PhD
Principal Scientist, Bioinformatics, PacBio
Resolving highly homologous genes with long-read PacBio HiFi sequencing: SMN1 (spinal muscular atrophy) and beyond

Edd Lee
Director, Human Genomics
PacBio
Host and moderator

Democratizing Genome Assembly and Annotation

Ted Kalbfleisch, Ph.D., Associate Professor, University of Kentucky

Molecular Genetic Applications Enabled by Platinum Quality Reference Genome Assemblies in Octoploid Strawberry

Mitchell Feldmann, Ph.D., Postdoctoral Fellow, University of California, Davis.