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arXiv · 2403.19087

Just-DNA-Seq, open-source personal genomics platform: longevity science for everyone

Kulaga Anton·Borysova Olga·Karmazin Alexey·Koval Maria·Usanov Nikolay·Fedorova Alina·Evfratov Sergey·Pushkareva Malvina·Ryangguk Kim·Tacutu Robi
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Abstract

Genomic data has become increasingly accessible to the general public with the advent of companies offering whole genome sequencing at a relatively low cost. However, their reports are not verifiable due to a lack of crucial details and transparency: polygenic risk scores do not always mention all the polymorphisms involved. Simultaneously, tackling the manual investigation and interpretation of data proves challenging for individuals lacking a background in genetics. Currently, there is no open-source or commercial solution that provides comprehensive longevity reports surpassing a limited number of polymorphisms. Additionally, there are no ready-made, out-of-the-box solutions available that require minimal expertise to generate reports independently. To address these issues, we have developed the Just-DNA-Seq open-source genomic platform. Just-DNA-Seq aims to provide a user-friendly solution to genome annotation by allowing users to upload their own VCF files and receive annotations of their genetic variants and polygenic risk scores related to longevity. We also created GeneticsGenie custom GPT that can answer genetics questions based on our modules. With the Just-DNA-Seq platform, we want to provide full information regarding the genetics of long life: disease-predisposing variants, that can reduce lifespan and manifest at different age (cardiovascular, oncological, neurodegenerative diseases, etc.), pro-longevity variants and longevity drug pharmacokinetics. In this research article, we will discuss the features and capabilities of Just-DNA-Seq, and how it can benefit individuals looking to understand and improve their health. It's crucial to note that the Just-DNA-Seq platform is exclusively intended for scientific and informational purposes and is not suitable for medical applications.

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Kulaga Anton, Borysova Olga, Karmazin Alexey, Koval Maria, Usanov Nikolay, Fedorova Alina, Evfratov Sergey, Pushkareva Malvina, Ryangguk Kim, Tacutu Robi. 2024-03-28. Just-DNA-Seq, open-source personal genomics platform: longevity science for everyone. https://arxiv.org/abs/2403.19087

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