Bay Area Bioinformatics Forum

BayBifx and Roche present an exciting Advanced Technology Showcase!

We will be discussing the latest Roche SBX technology, as well as efforts in technology development at Myriad Genetics!

Agenda
5:00-5:45 - Arrival & Networking

5:45 - Presentations

Bao Ho - NGS Sales Specialist, Roche
Title: Sequencing by expansion (SBX), a versatile, high-throughput single-molecule sequencing technology for a variety of applications
Abstract: Demand for improved performance, speed, and lower costs of sequencing is fueled by continuous advances in research. The accuracy of single-molecule nanopore sequencing is challenged by fundamental signal-to-noise limitations resulting from the poor spatial resolution and molecular distinction of nucleobases. Additionally, cycle-based approaches require entire sequencing runs to complete before data is accessible. Roche’s novel approach aims to overcome these limitations, delivering speed, flexibility, and scalability so researchers can expand their sequencing capabilities beyond today’s limits.

Paula Esquetini - Scientist, Myriad Genetics
Title: Nanopore long read technology for genetic testing
Abstract: Next generation sequencing has revolutionized genetic testing with the ability to detect pathogenic variants with high accuracy through high sequencing depth. However, critical gaps remain for genes that have tandem repeats, pseudogenes, and large structural variants, among others. These regions remain inaccessible or ambiguous to short read sequencing. Long-read sequencing can fill these gaps with reads that can be up to 25-kb long for PacBio or up to 4-Mb long for Nanopore. Long reads enable comprehensive variant detection at lower coverage. This talk will focus on how we are leveraging Oxford Nanopore Technologies at Myriad to fill the gaps of short-read technologies and resolve complex genetic variations of clinical relevance.

Jack Roach - Computational Scientist, Myriad Genetics
Title: Using PacBio PureTarget long read sequencing to understand difficult-to-sequence genes
Abstract: Short read sequencing has revolutionized carrier screening but can leave gaps in understanding for difficult-to-sequence regions that may have tandem repeats, duplications, inversions, or other structural variants. Along with researchers at Pacific Biosciences, we are developing a long-read bioinformatics pipeline that uses PacBio long reads and PureTarget PCR-free chemistry to help understand variation at complex loci (such as FXN and SMN) and better inform patient outcomes.

General Announcements

7:30 - 9pm - Networking

Parking will be available in the garage adjacent to Myriad
Parking will be open until 9:30 pm