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Structural variation white paper

White paper

Date: 1st October 2019

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. This review is designed to provide an overview of structural variation and show how researchers are utilising the advantages of nanopore long-read sequencing to further enhance our understanding of genomic diversity and disease.

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