Structural variation white paper

Overview

Genomic variation comes in many forms, from single point mutations through to much larger structural variations. To date, the majority of genetic research has focused on single nucleotide polymorphisms (SNPs); however, it is now known that structural variation accounts for a greater number of variable bases than SNPs. Perhaps unsurprisingly then, While advances in sequencing technology over the last 40 years have increased our understanding of the genome considerably, its application to structural variation analysis has been limited by the shortread technology commonly used.