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Variant Detection with HiFi Reads (9 min video)

Aaron Wenger shares how HiFi reads performed in the PrecisionFDA Truth Challenge V2 compared to other techonologies.

The PrecisionFDA Truth Challenge was launched to evaluate variant calling for difficult regions of the human genome.

Customer Experience with HiFi Reads (2 min video)

PacBio users share how they are using HiFi reads to explore the genomes, transcriptomes, metagenomes. 

Hear about the benefits HiFi reads provide for addressing customers' life science questions.

Long-read Sequencing in Oncology and Population Research  (20 min video)

Shawn Levy from the HudsonAlpha Institute for Biotechnology and Discovery Life Sciences offers a look at his team’s early access experience with the Sequel II System. 

Recent work includes a project designed to improve sequencing results from FFPE samples with long-read data.

Increasing Solve Rates for Rare and Mendelian Diseases with Long-Read Sequencing (Full-length Webinar)

An update on variant detection capabilities on the Sequel II System 

“We set out to understand how new tools like the Sequel may help find an answer for some of our undiagnosed patients” - Kristen Sund

Recent Blog Post: Learn about Producing High-Quality Genomes with PacBio Sequencing

In Alabama, Scientists Use HiFi Data to Solve Rare Neurodevelopmental Disorders

In an exciting new preprint, scientists from the HudsonAlpha Institute for Biotechnology and the University of Alabama at Birmingham describe the use of highly accurate long-read sequencing to identify pathogenic variants responsible for previously undiagnosable, rare neurodevelopmental disorders. Read the full blog post.

Review: How Long-Read Sequencing Is Revealing Unseen Genomic Variation

“We are now embarking on an era where all genetic variation in an individual will be completely discovered,” write Glennis Logsdon (@glennis_logsdon), Mitchell Vollger (@mrvollger), and Evan Eichler in a recent Nature Reviews Genetics paper. Read the full blog post.

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Rare Disease Article

The Pathologist May 2020 Issue

"Never before have our laboratory techniques been so successful at identifying rare diseases..."