Structural Variations and Diseases

Genomics  variations are an important cause of human genetic diseases, and about 80% of rare diseases are due to genetic factors.  Genomics variations can be divided into single nucleotide variations (SNVs), small insertions or deletions (InDels<=50 bp) and structure variations (SVs>50 bp) by size.

The SVs cover a range of genetic alterations, including copy number variations(CNVs), duplications, translocations, insertions, deletions, tandem repeat expansions and inversions. Each human genome has approximately 20,000 SVs that compose more than half of genomics variations. To a greater extent than SNPs, , SVs have been shown to be responsible for human evolution, genetic diversity between individuals and a rapidly increasing number of diseases or susceptibility to diseases.

Make Undiagnosed Diagnosed

Advance your SVs’ research

The advent of low-cost sequencing has provided a deeper understanding of the role human genetic variation plays in health and disease. However, due to the limitations of short-read technologies, most studies only report SNVs and lnDels , and miss larger structural variants and other complex genomic elements.

Grandomics, which is based on Oxford Nanopore, Bionano and other sequencing technologies and NextSV, provides full access to human genomic variation through unmatched read lengths, uniform coverage, and exceptional accuracy. “Structural Variations Detection Project ” reveals previously hidden structural variants and produces direct variant phasing information across haplotype blocks. With the third generation sequencing technology, scientists gain new insight into the genetic basis of disease heritability.

Sequencing Strategy

New tech revolution

Project Workflow

Phase Studies

Phase 12018.4-2019.4

Study Participants: 1000 Samples(1 thousand people)
Length of Study: 2018.4-2019.4
Purpose: Establish a Chinese human reference genome database and health maps

Phase 22019.4-2020.4

Study Participants: 30K Samples(30 thousand people)
Length of Study: 2019.4-2020.4
Purpose: Datas of WGS and phenotypic were collected, integrated and analyzed

Phase 32020.4-2021.4

Study Participants: 70K Samples(70 thousand people)
Length of Study: 2020.4-2021.4
Purpose: Establish a Chinese human reference genome database and 100K genomic structure variation maps

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