Reading and writing genomes

Myles Axton, Alison Liu
{"title":"Reading and writing genomes","authors":"Myles Axton,&nbsp;Alison Liu","doi":"10.1002/ggn2.10016","DOIUrl":null,"url":null,"abstract":"<p>Research in genetics provides the basis for understanding the function and evolution of all living things. The disciplines of reading and writing genomes translate into sustainable economic development with the rational global goals of food security, maternal and child health, precision medicine, education and access to informatics technologies. We believe that many publications in our field are motivated by these goals and contain reusable modular elements that can be recombined both in research and in its translation, to attain them. Open research entails sharing not only the conclusions of science, but its materials, provenance, and gestation for the widest reuse by human and computational users. This means that we and our readers deplore any hiding or obscuring data sets or methods, and regret data sets in formally public repositories that have very slow accession or transfer rates. However, we will endeavor to work with all data producers who make contributions in good faith to genetics and genomics research.</p><p><i>Advanced Genetics</i> is an Open Research journal from Wiley, published online using the CC-BY 4.0 open attribution license to encourage maximum credit and rapid creative reuse of all scholarly work. We are delighted to receive Original Research Articles, Resources, Analysis, Technical Reports, and Perspectives in the areas of human, animal, plant and microbial genetics, genomics, and epigenomics, selecting those reports for peer review that we judge editorially to have the highest research utility, ethical standards, and societal impact. As professional, full-time editors at Wiley, we take responsibility for all manuscript decisions and peer reviewer assignment. Our Advisory Board Members have a complementary role to guide <i>Advanced Genetics's</i> mission as they see fit, anticipating the evolution of research and standards in our field, and, with us, providing leadership in promoting excellence in open research. Unlike Editorial Board members at some journals, <i>Advanced Genetics</i> advisors are our mentors, not manuscript editors. We welcome their commitment to the journal for as long as they wish, and advisors may leave or rejoin the board at will.</p><p>Since we offer an online journal, we are happy to consider reports in any format for peer review, provided they would not burden referees with their unusual length or complexity. We also welcome presubmission enquiries via our online database. Author and data set contributions and consortium roles can be described via the CRediT contributor taxonomy (https://www.casrai.org/credit.html). We support a range of community standards and databases and the FAIRSharing<span>1</span> community standards site (https://fairsharing.org) for best practices and semantic precision. The journal endorses the FAIR<span>2</span> data principles (https://www.go-fair.org/fair-principles/) and we recommend database submission of data sets and workflows to replace most of the prior use cases for Supplementary Information.</p><p>Research Articles should offer a new and substantial conceptual advance based on original experimental research and data, whereas Technical Reports need only detail a useful new method. Perspectives are literature reviews that set standards or propose future strategies in our field. Analysis articles offer opportunity to generate and test new hypotheses by interoperating or reusing existing data sets with new workflows. Resources provide provenance and curation of new data sets that will be of use to the community. If submissions are outside the scope of the journal or if editors consider them premature with respect to their field, we will make customized recommendation for appropriate Wiley journals that would peer review the work or suggest revisions that would typically qualify the work for peer review.</p><p>Enabling the market for genomics-based ideas needs generosity with rich metadata and careful attention to semantic precision, as well as a sensitive understanding of the legal, ethical and economic underpinning of resources based in the code and the families of living people. For an editor, this means having patience in the face of the many exceptions to the ideal of publicly funded, universal research access to all human, animal, and plant genomes and their associated traits and measurements. The resource-benefit balance is ever-present, and legal and ethics frameworks of genetic research evolve slowly in the legacy of past abuses of concepts of heredity. It is therefore essential that we recognize those data license conditions that aim to preserve participation of research subjects, build local resources and capacity and return benefits to the societies that initiated the studies. So, when genetics advances only on the terms of a commercial animal breeder or a security-conscious government, the conclusions and resources offered in the publication need to be maximized for reuse without derailing the sustainable long-term commitment of those producers to make their results available. Even in the sphere of publicly funded data resources in developed countries, it may be networks of excellence (consortia) spanning continents, institutions, and generations of diverse funding sources that are the guarantors of the security of the research subjects' data and the translational success of the research. Publishers looking for a highly cited paper—or data reusers looking to test their new algorithm—need to see where they fit in, and lobby for greater FAIRness from well-funded data generators. Proof of the reuse and interoperability of open research rests with the data users, so data providers need to enable and encourage their work.</p>","PeriodicalId":72071,"journal":{"name":"Advanced genetics (Hoboken, N.J.)","volume":"1 1","pages":""},"PeriodicalIF":0.0000,"publicationDate":"2019-07-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1002/ggn2.10016","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"Advanced genetics (Hoboken, N.J.)","FirstCategoryId":"1085","ListUrlMain":"https://onlinelibrary.wiley.com/doi/10.1002/ggn2.10016","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

Research in genetics provides the basis for understanding the function and evolution of all living things. The disciplines of reading and writing genomes translate into sustainable economic development with the rational global goals of food security, maternal and child health, precision medicine, education and access to informatics technologies. We believe that many publications in our field are motivated by these goals and contain reusable modular elements that can be recombined both in research and in its translation, to attain them. Open research entails sharing not only the conclusions of science, but its materials, provenance, and gestation for the widest reuse by human and computational users. This means that we and our readers deplore any hiding or obscuring data sets or methods, and regret data sets in formally public repositories that have very slow accession or transfer rates. However, we will endeavor to work with all data producers who make contributions in good faith to genetics and genomics research.

Advanced Genetics is an Open Research journal from Wiley, published online using the CC-BY 4.0 open attribution license to encourage maximum credit and rapid creative reuse of all scholarly work. We are delighted to receive Original Research Articles, Resources, Analysis, Technical Reports, and Perspectives in the areas of human, animal, plant and microbial genetics, genomics, and epigenomics, selecting those reports for peer review that we judge editorially to have the highest research utility, ethical standards, and societal impact. As professional, full-time editors at Wiley, we take responsibility for all manuscript decisions and peer reviewer assignment. Our Advisory Board Members have a complementary role to guide Advanced Genetics's mission as they see fit, anticipating the evolution of research and standards in our field, and, with us, providing leadership in promoting excellence in open research. Unlike Editorial Board members at some journals, Advanced Genetics advisors are our mentors, not manuscript editors. We welcome their commitment to the journal for as long as they wish, and advisors may leave or rejoin the board at will.

Since we offer an online journal, we are happy to consider reports in any format for peer review, provided they would not burden referees with their unusual length or complexity. We also welcome presubmission enquiries via our online database. Author and data set contributions and consortium roles can be described via the CRediT contributor taxonomy (https://www.casrai.org/credit.html). We support a range of community standards and databases and the FAIRSharing1 community standards site (https://fairsharing.org) for best practices and semantic precision. The journal endorses the FAIR2 data principles (https://www.go-fair.org/fair-principles/) and we recommend database submission of data sets and workflows to replace most of the prior use cases for Supplementary Information.

Research Articles should offer a new and substantial conceptual advance based on original experimental research and data, whereas Technical Reports need only detail a useful new method. Perspectives are literature reviews that set standards or propose future strategies in our field. Analysis articles offer opportunity to generate and test new hypotheses by interoperating or reusing existing data sets with new workflows. Resources provide provenance and curation of new data sets that will be of use to the community. If submissions are outside the scope of the journal or if editors consider them premature with respect to their field, we will make customized recommendation for appropriate Wiley journals that would peer review the work or suggest revisions that would typically qualify the work for peer review.

Enabling the market for genomics-based ideas needs generosity with rich metadata and careful attention to semantic precision, as well as a sensitive understanding of the legal, ethical and economic underpinning of resources based in the code and the families of living people. For an editor, this means having patience in the face of the many exceptions to the ideal of publicly funded, universal research access to all human, animal, and plant genomes and their associated traits and measurements. The resource-benefit balance is ever-present, and legal and ethics frameworks of genetic research evolve slowly in the legacy of past abuses of concepts of heredity. It is therefore essential that we recognize those data license conditions that aim to preserve participation of research subjects, build local resources and capacity and return benefits to the societies that initiated the studies. So, when genetics advances only on the terms of a commercial animal breeder or a security-conscious government, the conclusions and resources offered in the publication need to be maximized for reuse without derailing the sustainable long-term commitment of those producers to make their results available. Even in the sphere of publicly funded data resources in developed countries, it may be networks of excellence (consortia) spanning continents, institutions, and generations of diverse funding sources that are the guarantors of the security of the research subjects' data and the translational success of the research. Publishers looking for a highly cited paper—or data reusers looking to test their new algorithm—need to see where they fit in, and lobby for greater FAIRness from well-funded data generators. Proof of the reuse and interoperability of open research rests with the data users, so data providers need to enable and encourage their work.

读取和写入基因组
遗传学研究为理解所有生物的功能和进化提供了基础。基因组读写学科转化为可持续经济发展,实现粮食安全、妇幼保健、精准医疗、教育和获取信息技术等合理的全球目标。我们相信,我们领域的许多出版物都受到这些目标的激励,并包含可重复使用的模块元素,这些元素可以在研究和翻译中重新组合,以实现这些目标。开放研究不仅需要分享科学的结论,还需要分享其材料、来源和孕育过程,以供人类和计算机用户最广泛地重用。这意味着我们和我们的读者谴责任何隐藏或模糊的数据集或方法,并对正式公共存储库中具有非常缓慢的添加或传输速率的数据集表示遗憾。然而,我们将努力与所有真诚地为遗传学和基因组学研究做出贡献的数据生产者合作。《先进遗传学》是Wiley出版的一份开放研究期刊,使用CC-BY 4.0开放署名许可在线出版,以鼓励所有学术工作的最大限度的信任和快速创造性的再利用。我们很高兴收到人类、动物、植物和微生物遗传学、基因组学和表观基因组学领域的原创研究文章、资源、分析、技术报告和观点,我们将选择具有最高研究效用、道德标准和社会影响的报告进行同行评审。作为Wiley专业的全职编辑,我们负责所有的稿件决定和同行审稿人的分配。我们的顾问委员会成员在他们认为合适的情况下发挥互补作用,指导先进遗传学的使命,预测我们领域的研究和标准的发展,并与我们一起,在促进开放研究的卓越方面发挥领导作用。与某些期刊的编辑委员会成员不同,高级遗传学顾问是我们的导师,而不是手稿编辑。我们欢迎他们对期刊的承诺,只要他们愿意,顾问可以随意离开或重新加入董事会。由于我们提供在线期刊,我们很乐意考虑任何格式的同行评议报告,只要它们不会因不同寻常的长度或复杂性给审稿人带来负担。我们也欢迎通过我们的在线数据库进行预投稿查询。作者和数据集贡献以及联盟角色可以通过CRediT贡献者分类法(https://www.casrai.org/credit.html)来描述。我们支持一系列社区标准和数据库,以及FAIRSharing1社区标准网站(https://fairsharing.org),以获得最佳实践和语义精度。该杂志赞同FAIR2数据原则(https://www.go-fair.org/fair-principles/),我们建议数据库提交数据集和工作流程,以取代补充信息的大多数先前用例。研究论文应该在原始实验研究和数据的基础上提供一个新的和实质性的概念进展,而技术报告只需要详细介绍一个有用的新方法。观点是在我们的领域设定标准或提出未来战略的文献综述。分析文章提供了通过与新工作流互操作或重用现有数据集来生成和测试新假设的机会。资源提供了对社区有用的新数据集的来源和管理。如果提交的论文超出了期刊的范围,或者如果编辑认为它们在他们的领域中还为时过早,我们将为合适的Wiley期刊定制推荐,这些期刊将对论文进行同行评审,或者建议对论文进行修改,使其符合同行评审的条件。为基于基因组学的想法提供市场,需要慷慨地提供丰富的元数据和对语义精度的仔细关注,以及对基于代码和活着的人的家庭的资源的法律、伦理和经济基础的敏感理解。对于编辑来说,这意味着要有耐心面对公共资助的理想中的许多例外情况,对所有人类、动物和植物基因组及其相关特征和测量的普遍研究访问。资源利益平衡是永远存在的,遗传研究的法律和伦理框架在过去滥用遗传概念的遗产中演变缓慢。因此,我们必须承认这些数据许可条件,这些条件旨在保护研究对象的参与,建立当地资源和能力,并将利益回报给发起研究的社会。因此,当遗传学只在商业动物饲养者或有安全意识的政府的条件下取得进展时,出版物中提供的结论和资源需要得到最大限度的利用,而不会偏离这些生产者提供结果的可持续长期承诺。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
求助全文
约1分钟内获得全文 求助全文
来源期刊
自引率
0.00%
发文量
0
×
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
确定
请完成安全验证×
copy
已复制链接
快去分享给好友吧!
我知道了
右上角分享
点击右上角分享
0
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 布克学术 All rights reserved.
京ICP备2023020795号-1
ghs 京公网安备 11010802042870号
Book学术文献互助
Book学术文献互助群
群 号:481959085
Book学术官方微信