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Copy number variation (CNV) is a phenomenon in which sections of the genome are repeated and the number of repeats in the genome varies between individuals. [1] Copy number variation is a type of structural variation : specifically, it is a type of duplication or deletion event that affects a considerable number of base pairs. [ 2 ]
BGI Group, formerly Beijing Genomics Institute, is a Chinese genomics company with headquarters in Yantian, Shenzhen. The company was originally formed in 1999 as a genetics research center to participate in the Human Genome Project. [3] [4] It also sequences the genomes of other animals, plants and microorganisms. [5]
The company's first scientific instrument, called the PacBio RS, was released to a limited set of customers in late 2010., with full commercial release in early 2011. [17] [8] Sequencing provider GATC Biotech was selected by Pacific Biosciences as its first European service provider in late 2010. [18]
It was known that copy number variation plays a big role in many human diseases but at the time large scale studies of these duplications had not been done. They decided to sequence 130 breakpoints from 112 individuals that contained 119 known CNVs by doing whole genome sequencing as well as next generation sequencing. [7]
Copy-number variation (CNV) is a large category of structural variation, which includes insertions, deletions and duplications. In recent studies, copy-number variations are tested on people who do not have genetic diseases, using methods that are used for quantitative SNP genotyping.
In March 2013, Complete Genomics was acquired by BGI Group. [17] After the acquisition, Complete Genomics moved to San Jose, and in June 2018 became part of MGI. [18] [19] The acquisition was the one of the outcomes of $1.5 billion 'collaborative funds' i.e., '10 years loan' which was initially provided by China Development Bank to acquire all 128 of Illumina, Inc.'s newest and fastest next ...
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