A new study reveals a broader case for genetic mapping in disease research. Whole-genome sequencing provides an unprecedented look at the organization and behavior of Hodgkin’s lymphoma, the development of this and other cancers. and may lead to a better understanding of treatment.
The current standard of exome sequencing, a detailed survey of protein-coding genes, detects several cancer-progressing mutations and variants. But researchers at the Sylvester Comprehensive Cancer Center at the University of Miami Miller College of Medicine have found that whole-genome sequencing paints a bigger, broader picture and detects other changes associated with cancer development. The study also noted that whole-genome sequencing identified other key events such as chromotripsy, a chromosomal rearrangement that plays a role in many cancers.
Craig Moskowitz, Ph.D., Sylvester’s Oncology Service Line, said: , Miller, who is a professor of medicine at the school and a co-author of this study. “We found many genomic events that have never been recorded before. This is the best technique we have found for identifying new cancer drivers.”
The team’s research published in the journal detection of blood cancer, included the creation of a sorting system to isolate and expand the hallmarks of the hard-to-study and rare Hodgkin and Reed-Sternberg (cHL) cells, lymphoid cancers. Studies on these abnormal white blood cells, combined with whole-genome sequencing, can provide scientists with a template to look more closely at other cancers as well.
“Cancer is an incredibly complex disease and we still have a long way to go to fully understand it,” said C. Dr. Ola Landgren said. – Author on the study. “By leveraging whole-genome sequencing, we can better assess tumor evolution, identify structural issues, and hopefully gain new therapeutic insights.”
This follows news that the National Institutes of Health has developed an innovative software tool that can assemble whole genome sequences in just days. Verkko (“network” in Finnish) is Telomere-to- Created by the Telomere (T2T) consortium.
“We took everything we learned from the T2T project and automated the process,” says NHGRI deputy investigator Sergey Koren, spearhead of the Verkko project and senior author of the paper. “With Verkko, you basically press a button and get the complete genome sequence automatically.”
Twenty years to shift the human genome mapping needle from 92% to 100%, following the Human Genome Project’s ambitious plans to identify the more than 3 billion base pairs that make up DNA, it took the T2T consortium a manual, arduous task. Assemble the final fragments to complete the first gapless genome. Verkko can now complete the task in just a few days.
NHGRI Senior Research Fellow Adam Phillippy, who worked on the T2T project and Verkko, said: “This new software makes the assembly of complete genome sequences as affordable and routine as possible.”
Newly mapped regions of the human genome could lead to a better understanding and, in turn, treatments for disease. Scientists also hope Verkko will accelerate efforts to map the complete genomes of common research species such as mice, fruit flies and zebrafish to better understand these complementary animals. . Mapping even more distant species can also aid in comparative genomics, leading to new genetic connections between seemingly diverse species.
Verkko is still a work in progress and the software is in beta testing but available now. The research behind the creation of Verkko has been published in a journal nature biotechnology.
Source: University of Miami, National Institutes of Health
