Resolving challenging medically relevant genes in the human genome with native Oxford Nanopore reads

Oxford Nanopore reads of unrestricted length allow copy number variation calling for genes with highly similar paralogs, along with tandem repeat expansion characterisation and motif identification.

Download the poster to discover:

• How to distinguish medically relevant genes from their paralogs and enumerate copy number changes through phasing or assembly-based methods
• How to quantify tandem repeat expansions in the FMR1 and HTT genes and characterise motif switching and expansion in the AluSx3 element of RFC1