The advent of long read sequencing has opened the door to a more complete NGS pipeline. The current usage paradigm that we are observing is rather than an absolute migration from short read to long read sequencing, users are leveraging both methodologies to build comprehensive and reliable NGS analysis workflows. Short read sequencing has a heavy market share and well-established pipelines, and is still the standard for NGS, but long read sequencing has opened avenues to solving unsolved cases and finding clinically relevant variants that could not be found using short read. Long read sequencing gives you more power to migrate to a complete NGS pipeline, enabling detection of complex structural variants such as CNVs and fusions without relying on microarray and MLPA for further validation, and accounting for phased genotypes, for example.

This webcast delves into the benefits and use cases of each sequencing methodology, highlighting how they complement each other. We demonstrate an example use case in which short read and long read data is available for the same individual and how easy it is to analyze both data types in one VarSeq project, yielding clinically relevant results.

Watch on demand

Please enjoy this webcast recording. Should you have any questions about the content covered, please reach out to our team here.