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

Kulaga AntonInstitute for Biostatistics and Informatics in Medicine and Ageing ResearchInstitute of Biochemistry of the Romanian AcademyInternational Longevity Alliance, Borysova OlgaInternational Longevity AllianceCellFabrik SRL, Karmazin AlexeyInternational Longevity AllianceMitoSpace, Koval MariaInstitute of Biochemistry of the Romanian AcademyInternational Longevity Alliance, Usanov NikolayInstitute of Biochemistry of the Romanian AcademyInternational Longevity Alliance, Fedorova AlinaInstitute of Biochemistry of the Romanian Academy, Evfratov SergeyInstitute of Biochemistry of the Romanian Academy, Pushkareva MalvinaInstitute of Biochemistry of the Romanian Academy, Ryangguk KimOak Bioinformatics LLC, Tacutu RobiSecvADN SRL
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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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开源个人基因组学平台 Just-DNA-Seq:人人享有的长寿科学
随着以相对低廉的价格提供全基因组测序服务的公司的出现,基因组数据越来越容易被公众获取。然而,由于缺乏关键细节和透明度,这些公司的报告无法验证:多基因风险评分并不总是提及所涉及的所有多态性。同时,对于缺乏遗传学背景的人来说,手工调查和解释数据也具有挑战性。目前,还没有开放源码或商业解决方案能提供超过有限数量多态性的综合长寿报告。此外,也没有现成的、开箱即用的解决方案,只需极少的专业知识就能独立生成报告。为了解决这些问题,我们开发了 Just-DNA-Seq 开源基因组平台。Just-DNA-Seq 旨在为基因组注释提供用户友好型解决方案,允许用户上传自己的 VCF 文件,并接收其基因变异和与基因相关的多基因风险评分的注释。我们还创建了 GeneticsGenie 定制 GPT,可根据我们的模块回答遗传学问题。通过 Just-DNA-Seq 平台,我们希望提供有关长寿遗传学的全部信息:可缩短寿命并在不同年龄段表现出来的疾病易感变体(心血管、肿瘤、神经退行性疾病等)、促长寿变体和长寿药物药代动力学。在这篇研究文章中,我们将讨论 Just-DNA-Seq 的特点和功能,以及它如何为希望了解和改善自身健康状况的人带来益处。值得注意的是,Just-DNA-Seq 平台仅用于科学和信息目的,并不适用于医疗应用。
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