PacBio HiFi Variant Detection

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William J. Rowell
Senior Scientist, Bioinformatics

My research interests include the detection and phasing of small variants in long read sequencing data.

Publications

Talks

Variant detection and de novo assembly with HiFi reads

Applications update for comprehensive variant detection and de novo assembly with HiFi reads.

Advantages of HiFi reads for variant discovery and genome assembly

The PacBio Sequel II System is capable of generating highly accurate, long reads (HiFi reads) that can be used for variant detection …

Comprehensive Variant Detection with Highly Accurate Long Reads

Recent improvements in library preparation and sequencing chemistry have increased the length, accuracy, and throughput of PacBio …

Comprehensive Variant Detection with Highly Accurate Long Reads

Reviewing benchmark v3.3.2 PacBio CCS discrepancies in benchmark v4alpha

Comprehensive Variant Detection with Highly Accurate Long Reads

Recent improvements in library preparation and sequencing chemistry have increased the length, accuracy, and throughput of PacBio …

Detecting and Phasing Small Variants with Highly Accurate Long Reads

We summarize the challenges around small variant detection for highly accurate (>=99%) long reads and present workflow solutions …