Long-read sequencing as a single test to evaluate individuals with suspected genetic disorders

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.

Danny Miller, Assistant Professor, University of Washington and Seattle Children's Hospital, Seattle, WA

• Danny discussed how long nanopore sequencing reads can be used to evaluate individuals with suspected genetic disorders. He highlighted that long nanopore sequencing reads enable single nucleotide variants (SNVs), insertions and deletions (indels), structural variants (SVs), and methylation to be called and phased from a single data source

• Long nanopore sequencing reads can shorten the time taken to characterise a disease and can increase the rate of detection of diseases; a traditional genetic workup currently is only successful in 50% of cases

• He then went on to show how long nanopore sequencing reads were used to identify a novel disease-causing nonsense variant in the SLC39A4 gene

• Danny ended by demonstrating how Oxford Nanopore’s sequencing technology was used to characterise inheritance of specific familial variants in under three hours from birth. You can read more here.