The behavior and function of cellular life is dictated by gene structure and content.
Changes in genomic structure and content affect gene products and can result in dysfunctional consequences. Functional Genomics Research is dependent on technologies that enable the characterization of these changes. To date, the most significant impact in Functional Genomics Research has come from DNA sequencing advancements (i.e. short-read and long-read sequencing). The resulting strides in understanding gene function and structure through DNA sequencing have uncovered a significant technological gap that prevents us from analyzing the majority of genomic changes caused by structural variants. Information regarding complex variants has remained inaccessible despite their importance. The use of genome mapping enables access to structural variant information that was previously unattainable.
Genomic structural variations, including deletions, duplications, inversions, translocations, and insertions, play a critical role in the genetic basis of various diseases and phenotypic traits. These variations can significantly impact gene expression, regulatory elements, and protein function, ultimately influencing an individual’s health and susceptibility to diseases1. In functional genomics research, accurate and comprehensive detection of genomic structural variations is imperative to elucidate their functional implications and potential clinical relevance.