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Breakthrough discoveries in genomics, transcriptomics and epigenomics with HiFi long-read sequencing
Expanding NGS truth sets with long-reads: more comprehensive variant detection in a multi-generational pedigree
Experience a new era of short-read sequencing accuracy with the Onso system. In this illuminating video, Candice Wike, Ph.D., from the Translational Genomics Research Institute (TGen), part of City of Hope, joins Product Marketer Young Kim in Menlo Park. During their conversation they take us on a journey through the remarkable world of TGen’s research and highlights the game-changing potential of this advanced technology.
TGen, located in Phoenix, AZ, is a nonprofit biomedical research institute focused on precision medicine in areas such as oncology, pathogens and infectious diseases, rare childhood disorders, and neurological disorders.
In discussing her experience with PacBio’s Onso system, Dr. Wike highlights the system's exceptional accuracy, spotlighting its capacity to detect ultra-low variants with unprecedented precision. The significance of this accuracy is emphasized as she discusses the beauty of mapped reads and the statistical power they offer, enabling the detection of variants at an astonishingly low frequency of 0.001%.
She also explains how the high accuracy from the technology’s sequencing by binding (SBB) chemistry, reduces the need for complex library prep methods and intricate downstream bioinformatics pipelines in the short-read sequencing space. With the PacBio Onso system, researchers like Dr. Wike can trust that the data they see is a direct representation of their findings, removing the need for additional error correction processes. Beyond the technical intricacies, Dr. Wike discusses PacBio’s collaboration with TGen and how Onso, with its ability to detect variants at such high accuracy, will enable TGen to continue asking the questions that push the boundaries of precision medicine.
In this webinar Arthur Dondi discusses:
- Detection of cell type-specific known and novel isoforms
- Capture and quantification of full-length isoforms, mutations and fusions in the same scRNA-seq dataset
- Detection of a gene fusion that was misclassified in matched short-read data
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