开源个人基因组学平台 Just-DNA-Seq:人人享有的长寿科学

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
{"title":"开源个人基因组学平台 Just-DNA-Seq:人人享有的长寿科学","authors":"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","doi":"arxiv-2403.19087","DOIUrl":null,"url":null,"abstract":"Genomic data has become increasingly accessible to the general public with\nthe advent of companies offering whole genome sequencing at a relatively low\ncost. However, their reports are not verifiable due to a lack of crucial\ndetails and transparency: polygenic risk scores do not always mention all the\npolymorphisms involved. Simultaneously, tackling the manual investigation and\ninterpretation of data proves challenging for individuals lacking a background\nin genetics. Currently, there is no open-source or commercial solution that\nprovides comprehensive longevity reports surpassing a limited number of\npolymorphisms. Additionally, there are no ready-made, out-of-the-box solutions\navailable that require minimal expertise to generate reports independently. To\naddress these issues, we have developed the Just-DNA-Seq open-source genomic\nplatform. Just-DNA-Seq aims to provide a user-friendly solution to genome\nannotation by allowing users to upload their own VCF files and receive\nannotations of their genetic variants and polygenic risk scores related to\nlongevity. We also created GeneticsGenie custom GPT that can answer genetics\nquestions based on our modules. With the Just-DNA-Seq platform, we want to\nprovide full information regarding the genetics of long life:\ndisease-predisposing variants, that can reduce lifespan and manifest at\ndifferent age (cardiovascular, oncological, neurodegenerative diseases, etc.),\npro-longevity variants and longevity drug pharmacokinetics. In this research\narticle, we will discuss the features and capabilities of Just-DNA-Seq, and how\nit can benefit individuals looking to understand and improve their health. It's\ncrucial to note that the Just-DNA-Seq platform is exclusively intended for\nscientific and informational purposes and is not suitable for medical\napplications.","PeriodicalId":501070,"journal":{"name":"arXiv - QuanBio - Genomics","volume":"30 1","pages":""},"PeriodicalIF":0.0000,"publicationDate":"2024-03-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"Just-DNA-Seq, open-source personal genomics platform: longevity science for everyone\",\"authors\":\"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\",\"doi\":\"arxiv-2403.19087\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"Genomic data has become increasingly accessible to the general public with\\nthe advent of companies offering whole genome sequencing at a relatively low\\ncost. However, their reports are not verifiable due to a lack of crucial\\ndetails and transparency: polygenic risk scores do not always mention all the\\npolymorphisms involved. Simultaneously, tackling the manual investigation and\\ninterpretation of data proves challenging for individuals lacking a background\\nin genetics. Currently, there is no open-source or commercial solution that\\nprovides comprehensive longevity reports surpassing a limited number of\\npolymorphisms. Additionally, there are no ready-made, out-of-the-box solutions\\navailable that require minimal expertise to generate reports independently. To\\naddress these issues, we have developed the Just-DNA-Seq open-source genomic\\nplatform. Just-DNA-Seq aims to provide a user-friendly solution to genome\\nannotation by allowing users to upload their own VCF files and receive\\nannotations of their genetic variants and polygenic risk scores related to\\nlongevity. We also created GeneticsGenie custom GPT that can answer genetics\\nquestions based on our modules. With the Just-DNA-Seq platform, we want to\\nprovide full information regarding the genetics of long life:\\ndisease-predisposing variants, that can reduce lifespan and manifest at\\ndifferent age (cardiovascular, oncological, neurodegenerative diseases, etc.),\\npro-longevity variants and longevity drug pharmacokinetics. In this research\\narticle, we will discuss the features and capabilities of Just-DNA-Seq, and how\\nit can benefit individuals looking to understand and improve their health. It's\\ncrucial to note that the Just-DNA-Seq platform is exclusively intended for\\nscientific and informational purposes and is not suitable for medical\\napplications.\",\"PeriodicalId\":501070,\"journal\":{\"name\":\"arXiv - QuanBio - Genomics\",\"volume\":\"30 1\",\"pages\":\"\"},\"PeriodicalIF\":0.0000,\"publicationDate\":\"2024-03-28\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"arXiv - QuanBio - Genomics\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://doi.org/arxiv-2403.19087\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"\",\"JCRName\":\"\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"arXiv - QuanBio - Genomics","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/arxiv-2403.19087","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"","JCRName":"","Score":null,"Total":0}
引用次数: 0

摘要

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。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
查看原文
分享 分享
微信好友 朋友圈 QQ好友 复制链接
本刊更多论文
Just-DNA-Seq, open-source personal genomics platform: longevity science for everyone
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.
求助全文
通过发布文献求助,成功后即可免费获取论文全文。 去求助
来源期刊
自引率
0.00%
发文量
0
期刊最新文献
Allium Vegetables Intake and Digestive System Cancer Risk: A Study Based on Mendelian Randomization, Network Pharmacology and Molecular Docking wgatools: an ultrafast toolkit for manipulating whole genome alignments Selecting Differential Splicing Methods: Practical Considerations Advancements in colored k-mer sets: essentials for the curious Advancements in practical k-mer sets: essentials for the curious
×
引用
GB/T 7714-2015
复制
MLA
复制
APA
复制
导出至
BibTeX EndNote RefMan NoteFirst NoteExpress
×
×
提示
您的信息不完整,为了账户安全,请先补充。
现在去补充
×
提示
您因"违规操作"
具体请查看互助需知
我知道了
×
提示
现在去查看 取消
×
提示
确定
0
微信
客服QQ
Book学术公众号 扫码关注我们
反馈
×
意见反馈
请填写您的意见或建议
请填写您的手机或邮箱
已复制链接
已复制链接
快去分享给好友吧!
我知道了
×
扫码分享
扫码分享
Book学术官方微信
Book学术文献互助
Book学术文献互助群
群 号:481959085
Book学术
文献互助 智能选刊 最新文献 互助须知 联系我们:info@booksci.cn
Book学术提供免费学术资源搜索服务,方便国内外学者检索中英文文献。致力于提供最便捷和优质的服务体验。
Copyright © 2023 Book学术 All rights reserved.
ghs 京公网安备 11010802042870号 京ICP备2023020795号-1