Variant Calling and De Novo Genome Assembly with PacBio HiFi Reads

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PacBio HiFi reads are both long (>10 kb) and accurate (>99%) and can be used for comprehensive genomic analysis including de novo genome assembly, structural variant calling and single nucleotide variant calling.

Join our speakers as they share the latest advances in SMRT Sequencing.

Date: Wednesday, July 17, 2019
Time: 9:00 a.m. PDT
12:00 p.m. EDT
5:00 p.m. BST
Andrew Carroll, Ph.D.
Product Lead, Genomics
Google AI
We look forward to your participation as you learn about SMRT Sequencing!
Sarah Kingan, Ph.D.
Staff Scientist, Bioinformatics Applications


Dr. Carroll will explore how the GoogleAI team retrained DeepVariant, a highly accurate SNP and Indel caller, for PacBio HiFi data. The resulting DeepVariant models achieve comparable accuracies to short-read methods with the additional benefit of expanding accurate analyses into harder regions of the genome. He will also explore how PacBio HiFi data can improve the Genome in a Bottle benchmark sets.

Dr. Kingan will present recent work on de novo genome assembly using PacBio HiFi reads. She will highlight the benefits of HiFi data for base level accuracy, haplotype phasing, and ease of computation. In samples ranging from human to plants, she will benchmark various tools for HiFi assembly and phasing, including the newly extended FALCON-Unzip assembler