How Well Can We Phase The Diploid Human Genome?

Advancements in long read sequencing technology have enabled researchers to create de novo genome assemblies with impressive quality. Recent developments have even enabled phased assemblies. However, the underlying... [ view full abstract ]

Advancements in long read sequencing technology have enabled researchers to create de novo genome assemblies with impressive quality. Recent developments have even enabled phased assemblies. However, the underlying bioinformatics tools are extremely computationally intense, and can be challenging to work with. This talk will focus on taking two tools, FALCON and FALCON Unzip, to a cloud environment, allowing for more efficient resource usage and an improved user experience. With these tools in place, we characterize the ability of FALCON Unzip to provide accurate assembly and phasing information on a human dataset.