Resolving challenging medically relevant regions of the human genome with long Oxford Nanopore reads
)
Long nanopore reads allow calling of copy number variations of genes with highly similar paralogs, along with the enumeration and motif identification of tandem repeat expansions.
Download the poster to discover:
- How to distinguish medically relevant genes from their paralogs, and enumerate copy number changes through read counts 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