mitoLEAF:线粒体DNA谱系,进化,注释框架。

IF 2.8 Q1 GENETICS & HEREDITY
NAR Genomics and Bioinformatics Pub Date : 2025-06-11 eCollection Date: 2025-06-01 DOI:10.1093/nargab/lqaf079
Nicole Huber, Noah Hurmer, Arne Dür, Walther Parson
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引用次数: 0

摘要

线粒体DNA (mtDNA)的研究为遗传变异、人类进化和疾病机制提供了宝贵的见解。但是,维护一致和可靠的分类系统需要不断更新。自从Phylotree更新于2016年结束以来,单个研究中新单倍群发现的积累凸显了对集中资源的迫切需求,以确保分类的一致性。为了解决这一差距,我们提出了mitoLEAF,这是一个协作的、免费访问的、学术驱动的线粒体系统发育分析存储库。与通过订阅或购买限制客户访问的商业替代方案不同,mitoLEAF是公开访问和可复制的,确保了透明度和科学可重复性。mitoLEAF作为GitHub存储库托管,并由一个交互式网站提供支持,它提供了一个不断发展的、质量控制的系统发育资源,这些资源来自GenBank、EMPOP和同行评审的文献。在这个第一个版本中,它扩展了单倍群景观从5435到6409单倍群,整合了最近的发现和提高系统发育的准确性。通过排除已知的致病变异,mitoLEAF旨在减轻与报告医学相关变异相关的伦理问题。mitoLEAF将开放科学置于商业利益之上,是一个重要的、社区驱动的线粒体研究平台,促进合作和持续发展。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
mitoLEAF: mitochondrial DNA Lineage, Evolution, Annotation Framework.

The study of mitochondrial DNA (mtDNA) provides invaluable insights into genetic variation, human evolution, and disease mechanisms. However, maintaining a consistent and reliable classification system requires continuous updates. Since Phylotree updates ended in 2016, the accumulation of new haplogroup findings in individual studies has highlighted the critical need for a centralized resource to ensure consistent classifications. To address this gap, we present mitoLEAF, a collaborative, freely accessible, and academically driven repository for mitochondrial phylogenetic analyses. Unlike commercial alternatives that restrict access to their customers through subscription or purchase, mitoLEAF is openly accessible and replicable, ensuring transparency and scientific reproducibility. Hosted as a GitHub repository and supported by an interactive website, mitoLEAF provides an evolving, quality-controlled phylogenetic resource derived from GenBank, EMPOP, and peer-reviewed literature. In this first release, it expands the haplogroup landscape from 5435 to 6409 haplogroups, integrating recent findings and improving phylogenetic accuracy. By excluding known pathogenic variants, mitoLEAF aims to mitigate ethical concerns associated with reporting medically relevant variants. By prioritizing open science over commercial interests, mitoLEAF serves as a vital, community-driven platform for mitochondrial research, fostering collaboration and continuous development.

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来源期刊
CiteScore
8.00
自引率
2.20%
发文量
95
审稿时长
15 weeks
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