Functional Genomics Research

DNA structural variations can impact gene expression and function. Identifying SVs is essential for deciphering the functional consequences of genetic variation.

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.

Electronic genome mapping is revolutionizing the field by enabling precise and efficient detection of structural variants that cannot be reliably identified using other methods. Traditional sequencing methods face limitations in accurately identifying much of the structural variation that affect gene products and function, especially when it comes to repetitive and complex genomic regions². In contrast, genome mapping tools, such as Nabsys’ novel High Definition Mapping, offer sufficient coverage to enable high precision and sensitivity with regards to structural variant information. The use of Nabsys high definition mapping’s solid state electronic detection has the benefit of improved signal to noise and provides “best in class” resolution, resulting in the detection of structural variants as small as 300 bp and provides a significant advancement in Functional Genomics Research.

Incorporating efficient and high-resolution genome mapping tools ensures comprehensive coverage at minimal cost even when it comes to challenging regions like repetitive sequences and segmental duplications. The ability to accurately detect structural variations in these regions is vital, as they often harbor important functional elements and are associated with various genetic disorders³. Electronic genome mapping offers sufficient coverage and sensitivity to ensure a more complete and accurate representation of structural variants larger than 300 base pairs, facilitating a deeper understanding of the functional consequences of structural variations.