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Pacific Biosciences' Software Upgrade Enhances De Novo Genome Assembly, Variant Calling and cDNA Transcript Analysis

[By NBC-1TV H. J Yook]Pacific Biosciences of California, Inc. (Nasdaq:PACB) provider of the PacBio® RS High Resolution Genetic Analyzer, today announced it is releasing a new software upgrade that provides higher quality genome assemblies with near perfect base level accuracy in addition to other key features. The software upgrade extends the range of projects that uniquely benefit from the company's Single Molecule, Real-Time (SMRT®) DNA Sequencing method, and will be available to customers for download on January 31st.

SMRT Analysis 1.4 includes a new hierarchical de novo genome assembly process (HGAP), which allows researchers to assemble entire microbial and fungal genomes solely using PacBio long reads. As a result, users can generate better assemblies with a single library preparation and fewer SMRT® Cells than previous approaches that also required short-read sequencing technologies or circular consensus sequencing.

SMRT Analysis 1.4 also incorporates a new multi-read consensus algorithm called Quiver to determine the finished genome sequence with exceptional accuracy. Quiver can provide greater than 99.999% consensus accuracy for both resequencing and de novo assembly applications.

“The extra-long sequence reads and the subsequent highly accurate de novo assemblies produced by the PacBio RS through the latest software enhancements have immensely improved our ability to discover and understand novel genomes cost-effectively,” said J. Craig Venter, Ph.D., Founder, Chairman, and Chief Executive Officer at The J. Craig Venter Institute and CEO of Synthetic Genomics.

The software upgrade also includes support for analyzing full-length cDNA transcripts, facilitating understanding of transcription, gene structure and alternative splicing. Unlike any other sequencing technology, SMRT Sequencing can span entire cDNA transcripts with a single read, revealing the complete exonic structure of transcripts.



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