PacBio HiFi Reads for Comprehensive Characterization of Genomes and Single-Cell Isoform Expression скачать в хорошем качестве

PacBio HiFi Reads for Comprehensive Characterization of Genomes and Single-Cell Isoform Expression

In this ASHG 2020 CoLab presentation hear Principal Scientists, Aaron Wenger and Elizabeth Tseng share how highly accurate long reads (HiFi reads – learn more at https://www.pacb.com/HiFi) provide comprehensive variant detection for both genomes and transcriptomes. (0:22) Aaron Wenger describes how new improvements in protocols and analysis methods have increased scalability and accuracy of variant calling. As demonstrated in the precisionFDA Truth Challenge V2, HiFi reads (greater than 99% accurate, 15 kb - 20 kb) now outperform short reads for single nucleotide variant (SNV) and structural variant (SV) calling and match for small insertions and deletions (indels). This includes calling more than 30,000 small variants and more than 10,000 structural variants missed by short reads, many in medically relevant genes (learn more at https://www.pacb.com/variant). (20:36) Elizabeth Tseng describes how for Single-Cell RNA sequencing, HiFi reads allow for precise detection of unique molecular identifiers (UMIs) and single cell barcodes while still providing full-length transcript isoform information. Any single cell platform that produces full-length cDNA can be sequenced on the PacBio Systems, with the Sequel II System generating up to 3 million full-length reads per SMRT Cell 8M, sufficient to characterize ~3,000 single cells (Learn more at https://www.pacb.com/sc-isoseq). Legal & Trademarks: Visit https://www.pacb.com/legal-and-tradem...