We whole genome sequence 2 patients with congenital abnormalities and known complex de novo chromosomal rearrangements using the Nanopore MinION. We show how we can detect most previoulsy detected de
A collection of whole-genome long-read sequencing data from individuals representing different breeds of cattle. These data are used to create reference-quality assemblies and derive structural variat
To compare and contrast the necessity to explore mapping long-read genome sequencing data to the recently published Telomere-to-Telomere (T2T) reference genome for detection of rare and pathogenic inv
