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Diagnostics Genetics and epigenetics, Software and hardware, Technology and innovation

Smartphone DNA Sequencing Analysis with iGenomics

Credit: CSHL.

Over the years, despite increasing capabilities, devices have grown steadily smaller. Portable diagnostic devices make testing more accessible – but why not leverage the devices most of us use on a daily basis: our smartphones? Scientists at Cold Spring Harbor Laboratory (CSHL) have developed iGenomics: a smartphone app that is the world’s first mobile DNA sequence analyzer (1). 

We’ve made great strides in bringing the size and cost of DNA sequencing down – but, without a simple way to analyze the results, sequencers are still just one part of a complex pathway. Michael Schatz and Aspyn Palatnick created iGenomics to fill this gap. Users need only pair the app with a DNA sequencer to return a simple analysis of the results – anytime, anywhere.

“As the sequencers continued to get even smaller, there were no technologies available to let you study that DNA on a mobile device. Most of the studying of DNA – aligning, analyzing – is done on large server clusters or high-end laptops,” said Palatnick (2), who programmed the app over eight years, starting at age 14 under Schatz’s supervision.

DNA sequencing is constantly evolving – so what’s next? “Today, we all carry professional cameras in our pockets, so it’s not that hard to imagine in the next couple years, all of us carrying our own DNA sequencers on our smartphones as well,” said Michael Schatz, head of the Schatz Lab at CSHL (2). “There’s just so many opportunities to do measurements of our environment and look for pathogens – maybe even do scans of yourself.”

Palatnick and Schatz have created tutorials for analyzing a wide range of viral genomes, including SARS-CoV-2, and have made them available online. The app also enables DNA analysis in remote locations, with users “AirDropping” sequencing data to each other. This may open the door for sending the app to space, something the researchers hope to achieve one day. “There’s a lot of interest to do DNA sequencing in space. I’m trying to see if there’s a way we can get iGenomics up there,” said Schatz (2).

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  1. A Palatnick et al., Gigascience, 9, giaa138 (2020). PMID: 33284326.
  2. Cold Spring Harbor Laboratory (2020). Available at: http://bit.ly/39ZIqq7.

About the Author

Olivia Gaskill

During my undergraduate degree in psychology and Master’s in neuroimaging for clinical and cognitive neuroscience, I realized the tasks my classmates found tedious – writing essays, editing, proofreading – were the ones that gave me the greatest satisfaction. I quickly gathered that rambling on about science in the bar wasn’t exactly riveting for my non-scientist friends, so my thoughts turned to a career in science writing. At Texere, I get to craft science into stories, interact with international experts, and engage with readers who love science just as much as I do.

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