FEB 06, 2024 12:23 PM PST

New Tools Rapidly Detect & Interpret Genetic Mutations

WRITTEN BY: Carmen Leitch

The detection of rare variants or mutations in the human genome can take time and cost a lot of money. In recent years, scientists and clinicians have been aiming to make the process cheaper and faster. Several new approaches have been developed that can help doctors assess the genomes of their patients so they can make more informed decisions about treatment.

Image credit: Pixabay

A method has now been created called One-pot DTECT. This tool contains fragments of DNA and several enzymes that aim to reveal certain genetic signatures in carriers. The work has been published in Cell Reports Methods, and is explained in an open-source format. The graphical abstract from the study is pictured below.

The graphical abstract from Baudrier et al 2024 / Credit: Cell Reports Methods (2024). DOI: 10.1016/j.crmeth.2024.100698

"We've developed a method which is so simple to implement and use that any lab, anywhere in the world, can readily establish their own kit, to achieve a same-day analysis of genetic mutations for a few cents per sample," said senior study author Dr. Pierre Billon, PhD, an assistant professor at the Cumming School of Medicine at the The University of Calgary. "One-pot DTECT can confirm the presence of variants and determine the frequency of these mutations precisely."

Another tool based on CRISPR was developed a few years ago for the rapid detection of genetic mutations. This handheld device combines CRISPR gene editing technology with graphene transistors. This method applies nanoelectronics to DNA samples and scours the genome for mutations without having to amplify portions of the genome first. In most standard techniques, some form of PCR is applied to DNA to amplify regions of interest before they are sequenced and analyzed. This tool aims to streamline the entire process. This work was reported in Nature Biomedical Engineering.

When known mutations are identified, clinicians can diagnose a disease in their patient. But mutations have not always been associated with a specific disease, and the physiological impact of a genetic variant might not be readily known. Now there is a tool to help scientists predict the effect of a mutation. This tool is called Deciphering Mutations in Actionable Genes (DeMAG). It is available on an open source web server at demag.org, and the work was reported in Nature Communications.

This method is also focused on helping clinicians access known information that can help patients. While DeMAG can interpret the potential impact of single amino acid changes that could happen in 316 genes, these genes all have clinical relevance, and there are existing preventive diagnostics or therapeutics for them.

Sources: Max Planck Institute of Molecular Cell Biology and Genetics, Nature Communications, University of California Berkeley, Nature Biomedical Engineering, University of Calgary, Cell Reports Methods

About the Author
Bachelor's (BA/BS/Other)
Experienced research scientist and technical expert with authorships on over 30 peer-reviewed publications, traveler to over 70 countries, published photographer and internationally-exhibited painter, volunteer trained in disaster-response, CPR and DV counseling.
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