Deep learning has already had a huge impact on computer vision and speech recognition, and it’s making inroads in areas as computer-unfriendly as cooking. Now a new startup led by University of Toronto professor Brendan Frey wants to cause similar reverberations in genomic medicine.
Deep Genomics plans to identify gene variants and mutations never before observed or studied and find how these link to various diseases. And through this work the company believes it can help usher in a new era of personalized medicine.
Genomic research is hard. Scientists still know relatively little about our genes and how they interrelate. But Frey and others in the field now know enough that they can equip machines to do the heavy lifting. And there’s an awful lot of this heavy lifting to do. “Genomics is no longer about small datasets,” Frey tells Gizmag. “It’s now about very, very large datasets.”
For context, the first effort to sequence a full human genome took 13 years – running from 1990 to 2003. There are now many companies working to sequence many genomes at a time. The largest of these is called Illumina. “Illumina,” Frey says, “expects to sequence one million genomes in the next year. Each genome contains three billion letters. That’s a lot of data.”
To store and make sense of all that data, Deep Genomics built Spidex. The name is a portmanteau of “splicing index,” which basically means that Spidex is a database containing information about how lots and lots of different genetic variants affect (or are likely to affect) RNA splicing – a crucial step in gene expression that edits genes in different ways so that they can produce different kinds of proteins.
If RNA splicing goes off kilter, the consequences could range from nothing in particular to disease and cancer. Spidex is meant to help us separate the harmless variants from the harmful ones, and to understand how they relate to other genetic processes.
Spidex currently includes predictions to the tune of around 328 million such variants and the knock-on effects they pose for RNA splicing. That number is set to grow as the company applies its deep learning algorithms to classifying and interpreting more data.
Frey also notes that the bulk of those variants are in the “junk DNA” part of the genetic code. This is the bit that scientists had previously written off as irrelevant, even though it forms the vast majority of the genome. “Most medical genetic analysis currently deals only with mutations in what are called ‘protein-coding segments’ in DNA, or ‘exons,’ Frey explains. “This makes up only 1.5 percent of the genome.”
Read more: New company plans to revolutionize genomic medicine with deep learning
The Latest on: Genomic medicine
[google_news title=”” keyword=”Genomic medicine” num_posts=”10″ blurb_length=”0″ show_thumb=”left”]
via Google News
The Latest on: Genomic medicine
- MGI Tech opens Customer Experience Center in Brazil to contribute to the advancement of genomics in Latin Americaon April 28, 2024 at 2:54 am
Contributing to the advancement of genomics in Latin America, MGI Tech Co. Ltd. (MGI), a company committed to building core tools and technology to lead life science, announced the launch of its ...
- The Genetic Blueprint of Flight: New Research Reveals How Mammals Evolved To Glideon April 27, 2024 at 8:23 am
A crucial gene has been identified that clarifies the repeated emergence of gliding capabilities throughout the evolution of marsupials. People say “When pigs fly” to describe the impossible. But even ...
- Novel genetic test shows: this is how old I really amon April 27, 2024 at 7:00 am
The biological clock - and not the birth certificate - shows our true age. While medicine is making quantum leaps in life expectancy research, we put it to the test with a simple saliva test and the ...
- Can Genetic Testing Reveal the Right Antidepressant?on April 27, 2024 at 6:23 am
Pharmacogenetic testing is also insightful about how non-pharmaceutical interventions, such as dietary supplements like l-methylfolate or magnesium, might benefit patients. The test even offers ...
- How Quantum Computers Could Illuminate the Full Range of Human Genetic Diversityon April 26, 2024 at 10:26 am
Pangenomes that incorporate many people’s DNA could capture the breadth of human genetic diversity, and quantum computers may be a key enabler.
- Quantum Computing Meets Genomics: The Dawn of Hyper-Fast DNA Analysison April 26, 2024 at 2:13 am
A new project unites world-leading experts in quantum computing and genomics to develop new methods and algorithms to process biological data. Researchers aim to harness quantum computing to speed up ...
- BioAro Announces a Medical and Computing Breakthrough by Launching the 'World's Fastest' Real-Time Genomic Software 'PanOmiQ'on April 25, 2024 at 11:32 am
CALGARY, AB, April 25, 2024 /CNW/ - BioAro, a pioneer in genomic research and technology, is set to officially launch PanOmiQ, a revolutionary software that will redefine the landscape of genomic ...
- Examining the impact of gene-based breeding on agriculture and medicineon April 25, 2024 at 10:22 am
A research team has demonstrated that gene-based breeding (GBB) offers a transformative approach to advancing plant and animal breeding, showing remarkable predictability, speed, and ...
- Sidra Medicine Leads Largest Research On Rare Genetic Disease Risk In Middle Easton April 25, 2024 at 1:40 am
A study by Sidra Medicine, a member of Qatar Foundation, on rare genetic diseases in a wide-ranging and diverse Mid ...
- Using AI to improve diagnosis of rare genetic disorderson April 24, 2024 at 5:00 pm
It narrows the differential genetic diagnoses down to a few genes and has the potential ... They are affiliated with one or more of the following institutions: Baylor College of Medicine, Jan and Dan ...
via Bing News