Singleton rapid long-read genome sequencing as first-tier genetic test for critically ill children with suspected genetic diseases
Kamolvisit et al. explored the use of Oxford Nanopore sequencing as a first-tier genetic test for critically ill children in intensive care. Oxford Nanopore technology enabled the researchers to identify more causative variants than short-read sequencing, by better detecting structural variants (SVs) and offering phasing information. These advantages could lead to faster diagnoses and improved patient management in critical care settings in the future.
Key points:
The researchers identified causative pathogenic variants in 11/18 children with suspected genetic disorders
Oxford Nanopore sequencing uncovered three large deletions that short-read sequencing failed to detect
Phasing provided insights into autosomal recessive disorders without needing parental samples, increasing accessibility to genetic testing
The turnaround time for Oxford Nanopore sequencing was a median of 9 days — 3 days faster than the median time required for short-read sequencing
Read more from lead author Prof. Vorasuk Shotelersuk in our blog
Sample type: human blood
