Sequencing of Clinically Important Genes in the “Dark” Regions of Human Genome
Wednesday, 9 June 2021
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:
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Lori Aro, MBA
Senior Director, Clinical Genomics