A decade of structural variants: description, history and methods to detect structural variation.

摘要: In the past decade, view on genomic structural variation (SV) has been changed completely. SVs, previously considered rare events, are now recognized as largest source of interindividual genetic affecting more bases than single nucleotide polymorphisms, variable number tandem repeats and other small variants. They have also shown to play a role in phenotypic disease. this review, authors will provide an introduction SV; short historical perspective research variation; description types variants, how they may arisen; overview methods detecting focusing analysis high-throughput sequencing data.