PacBio Webinar Series

Sequencing of Clinically Important Genes in the “Dark” Regions of Human Genome


Wednesday, 9 June 2021


8:30 a.m. Delhi
11:00 a.m. Singapore
12:00 p.m. Seoul, Tokyo
1:00 p.m. Melbourne

There are many clinically important genes in “dark” regions of the human genome. These regions are characterized as dark due to a paucity of NGS coverage as a result of short-read sequencing or mapping difficulties. Low NGS sequencing yield can arise in these regions due to the presence of various repeat elements or biased base composition while inaccurate mapping is attributable to segmental duplications.

Recent improvements in PacBio sequencing chemistry and instrument performance combine to create a new PacBio data type of highly accurate long reads – HiFi reads.  These reads have the accuracy comparable to short read NGS but with 50-100 times longer read length.   Thus PacBio HiFi long-read sequencing coupled with an optimized, robust sequence target enrichment method has the potential to illuminate these dark regions.


Attend this webinar to understand how:

  • Long-read HiFi Sequencing provides new opportunities for sequencing clinically relevant but previously intractable regions of the human genome that are underrepresented in short-read sequencing. 
  • Accurate HiFi reads provide important phasing information, identify structural variations, and avoid potential confusion with pseudogenes.
  • SMRT Sequencing of these regions enables a better understanding of the relationship between genetic factors and personal health and has the potential to ultimately help guide health-related decisions.

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Lori Aro

Lori Aro, MBA

Senior Director, Clinical Genomics

Jeanette Gehrig