Researchers seeking to gain deeper insights into the relationship between DNA mutations and cancer through genomics sequencing utilized a long-read approach to obtain a more comprehensive genomic view. New EMBL research shows that long-read genomic sequencing seems to detect some DNA mutations
Instead of just piecing together short bits of a genome through short-read genomic sequencing, EMBL researchers used long-read nanopore sequencing to gain a more comprehensive understanding of DNA mutation connected to a cancer genome. Credit: Joana Gomes Campos de Carvalho/EMBL
Collaboration between EMBL’s bioinformaticians, genomic biologists, and clinicians from the German Cancer Research Centre allowed them to devise methods to identify and characterize DNA mutations and epigenetic patterns in data. Newer long-read sequencing methods potentially offer a way to detect mutations in cancer genomes in a better way. Nanopore sequencing allows researchers to carry out real-time sequencing of long DNA orfragments. It works by monitoring changes to an electrical current as nucleic acids – the building blocks of DNA and RNA – are passed through a protein nanopore. The resulting signal is computationally decoded to give the specific DNA or RNA sequence.
“Right from the start, we understood that the development of methods needed to be an essential part of our work,” Rausch said. “How can we use long-read sequencing best in a cancer genomic situation? Methods delivery was an important part of this project, and a number of tools came out of it that will hopefully be useful to the wider community.”
For the Korbel group, a discussion with colleagues at EMBL-EBI to work together on this project started almost five years ago, but it could only be realized when technology matured enough for them to implement their scientific vision with this long-read approach and subsequent analysis tools.
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