Most of the DNA sequence that is different between any two people is not contained in single nucleotide variants (SNVs), but rather in structural variants representing genetic differences of 50 base pairs or longer. Structural variants can involve the deletion and insertion of hundreds of base pairs, making them difficult or impossible to detect with short-read DNA sequencers. SMRT Sequencing produces read lengths averaging 10-18 kb, thus effectively identifying structural variants in a genome, even at low coverage.
“Discovering and identifying structural variants is essential for a deeper understanding of human biology and, increasingly, for characterizing and ultimately diagnosing disease,” said Jonas Korlach, Ph.D., Chief Scientific Officer for PacBio. “After years of overlooking structural variants due to technology limitations, scientists are now making enormous leaps in our understanding of these genetic elements with SMRT Sequencing. We expect that this trend will accelerate with continued adoption of the Sequel® System and our new Structural Variant Calling software.”
Recent structural variation publications and projects include:
|This consortium effort analyzed structural variation in three family trios with several technology platforms, including SMRT Sequencing, and report seven times more structural variation than was previously found with short-read sequencing. The resulting variant data sets can be used as gold standards throughout the genomics community.|
|To improve precision medicine for the Chinese population, Novogene announced that it will use SMRT Sequencing to develop a structural variant database from genome sequences of 1,000 Chinese individuals.|
|Scientists developed the SMRT-SV approach to identify structural variants in two haploid human genomes. They conclude that PacBio long-read sequencing is five times more sensitive to detecting structural variants than short-read sequencers.|
|Scientists present two new computational tools, NGMLR and Sniffles, designed to enhance sensitivity and precision for calling structural variants from SMRT Sequencing data.|
Complete Solution for Structural Variant Detection Featured at ASHG Annual Meeting
Geneticists and genetics researchers can learn about PacBio’s complete solution for structural variant detection, featuring the Sequel System and Structural Variant Calling software, at the
For more information about PacBio’s complete solution for structural variation detection, please visit https://www.pacb.com/sv.
About Pacific Biosciences
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