The limited capacity of long-read sequencing technologies has significantly limited researchers’ ability to efficiently apply long read sequencing data in drug development.

Discovery Life Sciences (Discovery) has addressed this challenge by building a service laboratory that utilizes over 20 Sequel® IIe devices from Pacific Biosciences (PacBio) and incorporates liquid handling and robotics to optimize efficiency, cost, and accuracy of large-scale, long-read sequencing projects.

To demonstrate the ability of this offering to discover novel isoforms that cannot be detected using established short read RNA-Seq technologies, Discovery partnered with researchers to analyze 12 human tumor samples using between 1 and 5 SMRT Cells per sample (3-18 million reads). When compared to short read sequencing results of the same samples, the data shows that even with only 3 million reads, long read technology can identify validated isoforms missed by very deep short read sequencing.

Analysis by quality control and annotation tools further shows that not only are the isoforms identified by short read sequencing much shorter, but they also are much more likely to be false positives, making analysis of the short read transcriptomes more difficult.