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Advantages of long reads for structural variation analysis

April 4, 2017

The genomic variation comes in many forms, from single point mutations through too 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 short read technology commonly used.

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