BCM-HGSC Long Read Sequencing Laboratory

The BCM-HGSC has been a leading institution in the development of cost effective, large-scale sequencing methods across a multitude of sequencing platforms, testing more than 250,000 samples. To further study all genomic variation we adopted the Pacific Biosciences platform in 2010 and the Oxford Nanopore platform in 2017. Current instrumentation at the BCM-HGSC for each includes the PacBio Sequel II and Oxford Nanopore PromethION. We have been closely engaged with each of these platforms to test improvements to sequencing chemistry and software including early access to new protocols.

Using these long-read platforms, we can phase variation across genes and detect complex structural variations that are unable to be resolved using the short-read sequencing data alone. The BCM-HGSC encourages using a hybrid approach of utilizing short read sequencing data with the addition of long read sequencing data to provide comprehensive variant analysis taking advantage of the strengths of each platform. At the same time, we also support projects and collaborations that focus solely on use of these long-read technologies. We have successfully implemented and optimized several protocols for these platforms including whole genome, amplicon, targeted and RNA sequencing.