Nanopore sequencing: insights from neonatal intensive care to cancer

Long-read nanopore sequencing has the potential to improve both the speed and yield of genetic characterisation and information. The presentation discussed how:

• Long-reads can more accurately discover and define large-scale structural variation, and the alignment of long-reads can provide a more accurate assessment of regions that are highly repetitive and duplicated.
• Using epigenomic signals associated with sequencing data can help confirm the pathogenicity for variants initially determined as of unknown significance, and so speed up obtaining the results, and potentially diagnosis.
• Detection of phased methylation can determine imprinted regions - and coupling this information with long-range haplotyping, allows assignment of parental origin of all human autosomes which could significantly increase the speed and reduce the cost of hereditary cancer testing.

Meet the speaker

Dr. Steven Jones gained his PhD at the Sanger Institute, Cambridge, UK in 1999, where he was involved in the C. elegans genome project. He is currently Head of Bioinformatics and Co-Director of the Genome Sciences Centre at BC Cancer in Vancouver and has played a role in numerous other genome projects, including human, mouse, rat, bovine, fruitfly, and SARS coronavirus.

Jones’ research focuses on the computational analysis of DNA sequences, and analysis of genomic and transcriptomic data. He has applied next-generation DNA sequencing technology to determine the mutations and rearrangements driving many tumour types. A key goal is to develop bioinformatic approaches to predict the most efficacious therapies from the genetic analysis of patient tumour samples to help guide clinical decision making.

Amongst Jones' many and varied honours and awards, he is a Fellow of the Royal Society of Canada as well as the Canadian Academy of Health Sciences. In 2014 and 2016, he was named by Thomson Reuters as one of the world's most influential researchers, being in the top 1% of cited scientists. In 2018, 2019, and 2020, Dr. Jones was recognised as one of the most highly cited scientific researchers and named one of the world’s most influential scientific minds by Clarivate Analytics. In June 2019, Dr. Jones was named Canada Research Chair in Computational Genomics at the University of British Columbia.

He has been invited to give over 160 presentations, nationally and internationally, and is an author on over 525 peer-reviewed publications (Google Scholar h-index 150). He is Principal Investigator and co-applicant on grants that have totaled over $700 million to date.