Genomic structural variations and beyond
During our lunch seminar, scientists using Oxford Nanopore’s technology discussed how they have used it to interrogate the intricacies of the human genome, including previously inaccessible structural, methylated, and phased variants.
Fritz Sedlazeck, Associate Professor, Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX; Department of Computer Science, Rice University, Houston, TX
-
Fritz opened by talking about the value of structural variant (SV) detection and utility of long nanopore sequencing reads for resolving SVs
-
He showcased the capability of the Sniffles2 SW for the curation of medically relevant genes by improving SV calling
-
He highlighted the GREGoR consortium as well as the All of Us (AoU) program as two large-scale initiatives using long nanopore sequencing read data for research and discovery and how Baylor will be sequencing 1000 AoU samples with nanopore sequencing
-
He ended by showing single-cell data on nanopore sequencing allows for a new level of resolution and SV and SNV detection.