Webinar - Nanopore from 100 to 1000 genomes: towards a better understanding of phenotypes

Genomic variation describes the differences between our genomes and the genomes of every living organism. Detecting those differences is a key step in genomic applications ranging from understanding human disease to understanding why some tomatoes are different in their taste/shape. Due to the diverse nature of genetic variations – ranging from small single base pair changes or modifications to large rearrangements – currently multiple sequencing technologies are necessary to detect them reliably. Thus, most of the studies focus only on single base pair changes or on a handful of samples.

In this Webinar Fritz introduced PRINCESS, a method that leverages a single nanopore sequencing run to detect all genetic variants at once. These include single nucleotide alterations up to large structural variations and methylation changes in context of haplotypes. This approach reduces the complexity of sequencing experiments and their cost. Simultaneously, PRINCESS enhances the resolution and insight on every genome.

He showed how this approach allows streamlined analysis of multiple hundreds of human genomes already sequencing on the PromethION and how it will allow us to scale-up to much larger cohorts (e.g. UK Biobank, Topmed, etc.) in the future.