Long Read Sequencing

Long range sequencing is essential to understand the full variability of a whole genome, enabling phasing and revealing large structural variations. Several genomics technologies have become available that offer long-read sequencing or long-range mapping with higher throughput and higher resolution analysis than ever before. These long-range technologies are rapidly advancing the field with improved reference genomes, more comprehensive variant identification and more complete views of transcriptomes and epigenomes.

The read length of a short read sequencing is between 100 and 600 bp, while that of a long read sequencing can be as much as 100kb or more. Sequence data that provides this long range information greatly facilitates the assembly of complex genomes, characterization of structural variation and genome structure and organisation. Thus, these long-range technologies are rapidly advancing the field with improved reference genomes, more comprehensive variant identification and more complete views of transcriptomes and epigenomes.

High quality genome assemblies facilitate the advancement of medical breakthroughs and precision medicine, breeding programs for agriculture, genetic resources for conservation and new insights into biology. Structural variants (SVs) contribute a large extent to the genetic diversity of the human genome and thus are of high relevance for cancer genetics, rare diseases and evolutionary genetics and study of the 3D genome. Phasing of genomes provides a better understanding of allelic differences and their impact on biology.

The advances in long-read and long-range sequencing technologies is enabling researchers to better understand biology like never before.


PacBio - The Premier Solution for Long Read Sequencing

The Sequel system, powered by single molecule, real-time (SMRT) technology, delivers long reads, high consensus accuracy, uniform coverage and epigenetic characterisation. This technology enables a comprehensive view of genomes, transcriptomes, and epigenomes. Create high-quality whole genome  de novo assemblies of eukaryotic organisms. Survey large population cohorts  and resolve structural variants. Read full-length transcripts to characterize isoform diversity. Target all variant types across relevant genomic regions. Detect epigenetic modifications simultaneously.

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sage-science-logo-300-dpi-2.pngSage Science

For long-read sequencing, it is usually beneficial to remove small fragments from the sample to best exploit the platform's capabilities. The Sage Science portfolio includes products to perform DNA size fractionation to assist in producing high quality libraries.

The BluePippin and PippinHT feature a High-Pass feature which only collect fragments above a size cut-off threshold. The SageELF also handles larger DNA fragments, binning them into size fractions. The SageHLS specializes in ultra-HMW DNA and extracts directly from cell suspensions to prevent unwanted shearing.

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