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":"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}
引用次数: 0
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.