• The Third Generation Sequencing Technologies

    Make Undiagnosed Diagnosed

The challenge ofthe dark matter in genome

While advances in short-read sequencing technologies have increased our understanding of the relationship between genetic variations and human healthe, most studies only report single nucleotide variants (SNVs) and small InDels due to the limitations of short-read technologies,and its application to uncovering larger structural variants especially“the dark matter in genome”remains a challenge.

The breakthrough brought by long-read sequencing technologies

With the development of long-read sequencing technologies such as the Oxford Nanopore Technologies (ONT) and PacBio single molecule real-time (SMRT) sequencing, the challenge is now being addressed.

Long-read sequencing technologies can produce read length (typically 1,000 bp or longer) that is far higher than the 150-300bp produced by short-read sequencing, therefore being more likely to contain the whole structural variant and/or repetitive region providing much simpler analysis and more accurate genome assemblies.

As the world’s leading third-generation sequencing genome center and the world’s leading Oxford Nanopore sequencing center, Grandomics is committed to applying long-read sequencing technologies and innovative bioinformatics analysis to solve the difficulties of disease research and detection including genetic diseases,cancer and  gut microbiota.

Structural Variations Detection Project

Metagenomics  of Human Gut Microbiota

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