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This is a list of organizations involved in genetics research. Africa. Kenya ... Human Genome Sequencing Center (Baylor College of Medicine) Utah. ARUP Laboratories ...
The cost of high throughput DNA sequencing has reduced drastically from around $100 million/human genome in 2001 to around $1000/human genome in 2017. [3] Due to this increase in accessibility, high throughput DNA sequencing has become more widely used in research and clinical settings.
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]
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 ]
The nucleotide counts used for base calling contain errors and bias, both due do the sequenced reads themselves, and the alignment process. This issue can be mitigated to some extent by sequencing to a greater depth of read coverage, however this is often expensive, and many practical studies require making inferences on low coverage data. [1]
The Cancer Genome Atlas (TCGA): provides data from hundreds of cancer samples obtained using high-throughput techniques such as gene expression profiling, copy number variation profiling, SNP genotyping, genome-wide DNA methylation profiling, microRNA profiling, and exon sequencing of at least 1,200 genes