Genome/gene variation study is focusing on genome/gene differences exploration between individuals of a species. The major types of genetic variations include Single Nucleotide Polymorphisms (SNPs), Insertion and deletions (Indels), Copy number Variations (CNVs) and Structure Variations (SVs, involve rearrangements of large segments of DNA, including insertions, deletions and inversions). Studies on genome/gene variation could speed up the process of complex disease research. The catalogue of common SNPs, generated by the International HapMap project, greatly promoted researches in complex disease and over 200 new genes were discovered to be attributable to diseases in the latest few years, which was beyond the sum efforts of the previous decade. Studies of BGI on this area include:
Whole genome resequencing
This area focus on sequencing of the individuals of a species whose genome had been sequenced. As more and more genomes of important species had been and being decoded, with the development of second generation sequencing technology, scientists now find it’s time to carry out resequencing projects of individual level.
Resequencing is very necessary and is of great significance. Human phenotypes are different among each other. Individuals respond differently to a same medicine, for which the genetic diversity takes a great responsibility. Genetic variation studies among individuals of domesticated and wild silkworms could help understand the genes controlling the quantity and quality of silk production. High variation rate helps evolve new medicine tolerated pathogenic microbes, which frequently failed medicines not long after them testified to be efficient. It is also the strong evolution ability of pathogenic microbes that helps plagues came back several times. Studies on Individuals and large scale reseuqencing will underpin the research of personal medicine, complex disease, identification of quantitative character control genes of plant and animal, pathogenicity and evolution principles of microorganism and etc.
We’re focusing on developing high performance alignment software for short reads mapping and for variation identification.
Target region resequencing refers to resequencing of target regions of individuals of a species, which enables scientists investigating interested genome regions with a much lower cost. Recently, we have put our efforts mainly on two methods of target resequencing, including PCR based candidate genes resequencing and exon capture based whole exome resequencing. We’re focusing on large scale and huge number of samples’ target region resequencing for identification and study of complex disease associated genome/gene variations.
