Streamlined chromosome-scale phasing with HiFi sequencing

Reconstructing complete phased genomes is key to understanding the genetic basis of many complex traits. However, the bioinformatic complexity of long-range phasing creates a pressing need for streamlined, efficient computational approaches that can reconstruct high-quality, chromosome-scale phased sequences at scale.

Highly accurate long reads from PacBio (HiFi reads) are well suited for haplotype-resolved assemblies of human, non-human, and cancer genomes. With the right bioinformatics tools, HiFi data enables high-quality phased genome assembly to examine structural variant landscapes, characterize cancer-related mutations, and facilitate new, unbiased studies of haplotype variation.

In this webinar, Shilpa Garg, PhD, associate professor at DTU Biosustain, discusses:

• The need for chromosome-scale phasing in reference genomes
• Efficient and accurate haplotype-resolved human genome assembly
• Generalized graph-based methods for phased assembly of cancer genomes

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