MorbidGenes 面板：每月更新的罕见疾病诊断相关基因列表，这些基因来自不同来源。

IF 3.8 2区生物学 Q2 GENETICS & HEREDITY

Human Genetics Pub Date : 2024-12-01 Epub Date: 2024-10-28 DOI:10.1007/s00439-024-02711-z

Robin-Tobias Jauss, Bernt Popp, Joachim Bachmann, Rami Abou Jamra, Konrad Platzer

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引用次数: 0

摘要

目的：随着外显子组测序成为标准，诊断实验室需要一份原则上准确的罕见病相关基因列表。人工整理工作进展缓慢，而且往往针对特定疾病，而依靠单一来源的工作又过于不准确，可能会导致假阳性或假阴性基因：方法：我们根据一份公开数据库清单建立了MorbidGenes面板：方法：我们根据以下公开数据库列表建立了病态基因面板：OMIM、PanelApp、SysNDD、ClinVar、HGMD 和 GenCC。通过简单的逻辑推理，可以将至少一个来源支持的基因纳入其中，从而提供一份与诊断相关的所有基因列表：该面板可在 https://morbidgenes.uni-leipzig.de 上免费获取，目前包括 5037 个基因（截至 2024 年 10 月），这些基因在疾病因果关系方面具有最低限度的充分证据，可将其归类为诊断相关基因：MorbidGenes 基因库是一个基于各种资源的罕见疾病诊断相关基因的开放而全面的概览。该面板每月更新一次，以跟上罕见疾病基因数量的不断增长。

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The MorbidGenes panel: a monthly updated list of diagnostically relevant rare disease genes derived from diverse sources.

Purpose: With exome sequencing now standard, diagnostic labs are in need of a, in principle, to-the-day-accurate list of genes associated with rare diseases. Manual curation efforts are slow and often disease specific, while efforts relying on single sources are too inaccurate and may result in false-positive or false-negative genes.

Methods: We established the MorbidGenes panel based on a list of publicly available databases: OMIM, PanelApp, SysNDD, ClinVar, HGMD and GenCC. A simple logic allows inclusion of genes that are supported by at least one of these sources, providing a list of all genes with diagnostic relevance.

Results: The panel is freely available at https://morbidgenes.uni-leipzig.de and currently includes 5037 genes (as of October 2024) with minimally sufficient evidence on disease causality to classify them as diagnostically relevant.

Conclusion: The MorbidGenes panel is an open and comprehensive overview of diagnostically relevant rare disease genes based on a diverse set of resources. The panel is updated monthly to keep up with the ever increasing number of rare disease genes.

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来源期刊

Human Genetics 生物-遗传学

CiteScore

10.80

自引率

3.80%

发文量

审稿时长

1 months

期刊介绍： Human Genetics is a monthly journal publishing original and timely articles on all aspects of human genetics. The Journal particularly welcomes articles in the areas of Behavioral genetics, Bioinformatics, Cancer genetics and genomics, Cytogenetics, Developmental genetics, Disease association studies, Dysmorphology, ELSI (ethical, legal and social issues), Evolutionary genetics, Gene expression, Gene structure and organization, Genetics of complex diseases and epistatic interactions, Genetic epidemiology, Genome biology, Genome structure and organization, Genotype-phenotype relationships, Human Genomics, Immunogenetics and genomics, Linkage analysis and genetic mapping, Methods in Statistical Genetics, Molecular diagnostics, Mutation detection and analysis, Neurogenetics, Physical mapping and Population Genetics. Articles reporting animal models relevant to human biology or disease are also welcome. Preference will be given to those articles which address clinically relevant questions or which provide new insights into human biology. Unless reporting entirely novel and unusual aspects of a topic, clinical case reports, cytogenetic case reports, papers on descriptive population genetics, articles dealing with the frequency of polymorphisms or additional mutations within genes in which numerous lesions have already been described, and papers that report meta-analyses of previously published datasets will normally not be accepted. The Journal typically will not consider for publication manuscripts that report merely the isolation, map position, structure, and tissue expression profile of a gene of unknown function unless the gene is of particular interest or is a candidate gene involved in a human trait or disorder.