Sristi Raj Rai, Amity University Kolkata
DNA sequencing is one of the key vertebrae that form the backbones of the evolving areas in the field of Biology and other sciences. It is a process that helps us to figure out the sequence in which the nucleotides are arranged in a DNA molecule. Thus, it can determine the sequence of individual genes, larger genetic material, full chromosome, or even a whole genome. With the development of the fourth generation of DNA sequencing technology – Nanopores, Oxford Nanopore Technology (ONT, Oxford, UK) offers a hand-held MinION integrated with an Application-Specific Integrated Circuits (ASIC) with signal amplifiers and wells. But this technology still lacked in terms of simplicity. These thirsts lead to the designing of iGenomics – an open-source application (https://github.com/stuckinaboot/iGenomics) that can be easily downloaded for free for Apple users (https://apple.co/2HCplzr) by Palatnick et al., which almost took eight years. No matter how advantageous your laboratory machines/techniques and laptop are, but it is not as handy as your iPhones/iPads are.
Cold Spring Harbor Laboratory (CSHL) developed the world’s first application for genome analysis, iGenomics. It is optimized to run on a phone environment which can align reads, call variants, and can view the results on their phone screen. Moreover, its performance level can be compared to modern aligners such as BWA-MEM/SAMtools/IGV suite. The algorithms have been tested using both real and simulated datasets, and the outcome guarantees steady speed, correctness, and trustworthiness. One can easily now map the viral genomes (Zika or Flu viruses) and pinpoint mutations, crucial for diagnosis and treatments of these diseases. They even have an online tutorial on how to analyze SARS-CoV-2 genomes from patients. Moreover, the technology will be fruitful for astronauts as they have a lot of sequencing to be done in space. This will for sure hasten the research that has to be done in the upcoming future.
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SOURCE – Aspyn Palatnick, Bin Zhou, Elodie Ghedin, Michael C Schatz, iGenomics: Comprehensive DNA sequence analysis on your Smartphone, GigaScience, Volume 9, Issue 12, December 2020, giaa138, https://doi.org/10.1093/gigascience/giaa138
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