Mendel,MD: A user-friendly open-source web tool for analyzing WES and WGS in the diagnosis of patients with Mendelian disorders.
Mendel,MD: A user-friendly open-source web tool for analyzing WES and WGS in the diagnosis of patients with Mendelian disorders.
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DOI：
10.1371/journal.pcbi.1005520
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发表时间：
2017-06
影响因子：
4.3
通讯作者：
Pena SDJ
中科院分区：
文献类型：
--
作者：
G C C L Cardenas R;D Linhares N;L Ferreira R;Pena SDJ
全外显子组和全基因组测序已成为研究和诊断人类孟德尔疾病的广泛采用的方法。作为泛基因组不可知测试，与传统测序方法相比，它们能够更准确和灵活地诊断。本文介绍了一种名为Mendel，MD的新软件，该软件结合了多种类型的过滤选项，并利用定期更新的数据库来促进外显子组和基因组注释，过滤过程以及候选基因和变体的选择，以进行实验验证和可能的诊断。该工具提供了一个用户友好的界面，并通过限制候选人的数量来引导临床医生完成简单的步骤，以实现医学遗传学病例的最终诊断。一个有用的创新是“1-click”方法，它可以列出OMIM中存在的基因中的所有相关变体，供临床医生阅读。Mendel，MD使用文献中的临床病例进行了实验验证，并由米纳斯吉拉斯联邦大学、巴西GENE-Núcleo de Genética Médica和爱尔兰都柏林儿童大学医院的学生进行了测试。我们在这篇文章中展示了它如何简化和提高识别每个临床病例中的罪魁祸首突变的速度。Mendel，MD被证明是一个可靠的基于网络的工具，是开源的，并且在孟德尔疾病患者的不同临床病例中识别罪魁祸首突变的时间效率高。学术用户也可以通过以下URL免费访问它：https://mendelmd.org。
Whole exome and whole genome sequencing have both become widely adopted methods for investigating and diagnosing human Mendelian disorders. As pangenomic agnostic tests, they are capable of more accurate and agile diagnosis compared to traditional sequencing methods. This article describes new software called Mendel,MD, which combines multiple types of filter options and makes use of regularly updated databases to facilitate exome and genome annotation, the filtering process and the selection of candidate genes and variants for experimental validation and possible diagnosis. This tool offers a user-friendly interface, and leads clinicians through simple steps by limiting the number of candidates to achieve a final diagnosis of a medical genetics case. A useful innovation is the “1-click” method, which enables listing all the relevant variants in genes present at OMIM for perusal by clinicians. Mendel,MD was experimentally validated using clinical cases from the literature and was tested by students at the Universidade Federal de Minas Gerais, at GENE–Núcleo de Genética Médica in Brazil and at the Children’s University Hospital in Dublin, Ireland. We show in this article how it can simplify and increase the speed of identifying the culprit mutation in each of the clinical cases that were received for further investigation. Mendel,MD proved to be a reliable web-based tool, being open-source and time efficient for identifying the culprit mutation in different clinical cases of patients with Mendelian Disorders. It is also freely accessible for academic users on the following URL: https://mendelmd.org.