Bioinformatics Center, CSIR-Institute of Microbial Technology, Sector 39A, Chandigarh 160036, India; Academy of Scientific and Innovative Research (AcSIR), Ghaziabad 201002, India.
Bioinformatics Center, CSIR-Institute of Microbial Technology, Sector 39A, Chandigarh 160036, India.
Mitochondrion. 2021 Nov;61:54-61. doi: 10.1016/j.mito.2021.09.005. Epub 2021 Sep 24.
MitoLink is a generic, scalable and modular web-based workflow system developed to study genotype-phenotype correlations in human mitochondrial diseases. MitoLink integrates applications for assessment of genomic variation and currently houses genome-wide datasets from GenomeAsia Pilot project, gnomAD, ClinVar and DisGenNet. In this study, a reference list of nearly 3975 proteins (both nuclear and mitochondrial encoded) with mitochondrial function is reported. This protein set is mapped to disease associated variants in the GenomeAsia Pilot Project and DisGenNet and evaluated for pathogenicity as defined by ClinVar. Observations of shared genetic components in potential comorbidities are discussed from gene-disease network in Asian population, however, the platform is generic and can be applied to any population dataset. MitoLink is a unique customized workflow system that allows for systematic storage, extraction, analysis and visualization of genomic variation to understand genotype-phenotype correlations for mitochondrial diseases. Given the modularity of tool and data integration, MitoLink is a scalable system that can accommodate a diverse set of applications linked via standard data structure within the framework of Galaxy. MitoLink is built on FAIR principles and supports creation of reproducible workflows towards understanding genotype-phenotype correlations across several disease phenotypes globally.
MitoLink 是一个通用的、可扩展的模块化基于网络的工作流程系统，旨在研究人类线粒体疾病中的基因型-表型相关性。MitoLink 集成了用于评估基因组变异的应用程序，目前拥有来自 GenomeAsia 试点项目、gnomAD、ClinVar 和 DisGenNet 的全基因组数据集。在这项研究中，报告了近 3975 个具有线粒体功能的蛋白质（核编码和线粒体编码）的参考列表。将这个蛋白质组映射到 GenomeAsia 试点项目和 DisGenNet 中与疾病相关的变异，并根据 ClinVar 定义评估其致病性。从亚洲人群的基因-疾病网络中讨论了潜在共病的共享遗传成分，但是，该平台是通用的，可以应用于任何人群数据集。MitoLink 是一个独特的定制工作流程系统，允许对基因组变异进行系统的存储、提取、分析和可视化，以了解线粒体疾病的基因型-表型相关性。鉴于工具和数据集成的模块化，MitoLink 是一个可扩展的系统，可以通过 Galaxy 框架内的标准数据结构容纳各种应用程序。MitoLink 建立在 FAIR 原则的基础上，支持创建可重现的工作流程，以了解全球多个疾病表型的基因型-表型相关性。
