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Calling all variant types

PacBio Single Molecule, Real-Time (SMRT) Sequencing provides comprehensive detection of all variants in a genome. Increased variant detection improves power to link genetics to phenotypes of interests for novel discovery of genes and causative variants.

Variation between two human genomes, by number of base pairs impacted – Single nucleotide variants (SNVs); insertions and deletions (indels) involve fewer than 50 base pairs; structural variants (SVs) consist of greater than 50 base pairs. PacBio long-read sequencing enables comprehensive detection of all variant types.

 

Workflow: from DNA to Variant Detection

With highly accurate long reads (HiFi reads) produced with the circular consensus sequencing (CCS) mode, you can comprehensively detect all variants in a genome. HiFi reads provide high precision and recall for SNVs, indels, SVs, and copy number variants (CNVs), including in difficult-to-map repetitive regions.

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Workflow: from DNA to Structural Variant Detection

With long reads generated using the continuous long read (CLR) sequencing mode, you can affordably detect SVs, CNVs, and large indels ranging in size from tens to thousands of base pairs with high precision and recall.

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The 2019 HiFi for All SMRT Grant Program is Now Open!

Sequence All Life with Confidence Using HiFi Reads

Tell us how highly accurate long reads (HiFi reads) will drive new discoveries in your research for a chance to win free sequencing.

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To learn more about how SMRT Sequencing enables detection of all variants, contact us.

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