Just-DNA-Seq，开源个人基因组学平台：面向所有人的长寿科学
Just-DNA-Seq, open-source personal genomics platform: longevity science for everyone
AI总结：
本文提出开源平台Just-DNA-Seq，让用户上传VCF文件即可获得长寿相关遗传变异注释和多基因风险评分，并配套GeneticsGenie GPT问答，填补了全面长寿基因组报告工具的空白。
摘要：
随着一些公司以相对较低的成本提供全基因组测序，基因组数据对普通公众来说变得越来越容易获取。然而，由于缺乏关键细节和透明度，这些公司的报告无法得到验证：多基因风险评分并不总是列出所有涉及的多态性位点。与此同时，对于缺乏遗传学背景的个人来说，手动研究和解读数据具有挑战性。目前，没有任何开源或商业解决方案能够提供超越有限数量多态性位点的全面长寿报告。此外，也没有现成的、开箱即用的解决方案，能够让用户在只需极少专业知识的情况下独立生成报告。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旨在提供一种用户友好的基因组注释解决方案，允许用户上传自己的VCF文件，并获得与其遗传变异相关的注释以及与长寿相关的多基因风险评分。我们还创建了GeneticsGenie自定义GPT，它可以根据我们的模块回答遗传学问题。通过Just-DNA-Seq平台，我们希望提供关于长寿遗传学的完整信息：可能缩短寿命并在不同年龄表现出的疾病易感变异（心血管疾病、肿瘤疾病、神经退行性疾病等）、促长寿变异以及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的功能和能力，以及它如何帮助希望了解和改善自身健康的个人。必须指出的是，Just-DNA-Seq平台仅用于科学和信息目的，不适用于医疗应用。
英文摘要：
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.
机构、总结、中文摘要均由AI分析而来，可能存在错误，请以论文正文为准。
