Computational Advances in Genome and Transcriptome Using HiFi Sequencing скачать в хорошем качестве

Computational Advances in Genome and Transcriptome Using HiFi Sequencing

PacBio HiFi sequencing has been used to generate the latest and most complete version of the human genome, characterize population-level structural variations, diplotype pharmacogenetic loci, and elucidate complex alternative splicing at the single-cell level. The two main characteristics of HiFi data – long read length and high accuracy – are critical for applications that either require near-perfect consensus sequencing or long-range phasing information. However, existing computational tools that were designed for short-reads often failed to either utilize the long-range information or employed heuristics that did not apply to HiFi data. Thus, a new generation of alignment, assembly, splicing, and annotation tools had to be developed to support the advent of HiFi data. In this workshop, we will begin with an overview of how HiFi data improved genome and transcriptome assembly that was first demonstrated in theory then proven with algorithmic implementations. We then describe new bioinformatics tools that have been developed for HiFi data, including efficient genome coordinate liftovers, diplotyping complex human loci, extracting methylation information, and identifying allele-specific isoform information in single-cell data. Learn more about PacBio at https://pacb.com/ Legal & Trademarks: Visit https://www.pacb.com/legal-and-tradem...