Structural variants, copy number variants and single-nucleotide polymorphism are extensive present in the human
genome and closely related to the disease and health of human, so it is very important to discover these variances for the human's health.
Currently, there are many structural variants detecting methods based on second generation genome sequencing platform, including micro
arrays, read-pair technology, read-depth methods, split-read methods and sequence assembly. In this paper, we systematically elaborate their
basic principles, advantages, disadvantages and applications respectively, meanwhile, we briefly introduce the detecting performances
and applications of classical detecting algorithms based on each method and put forward some prospects of detecting algorithms in future. |