Section of Genetics, Department of Pediatrics, University of Oklahoma, Oklahoma City, OK, USA.
Genet Med. 2013 May;15(5):354-60. doi: 10.1038/gim.2012.136. Epub 2012 Oct 25.
This report describes a fast online tool to accelerate and improve clinical interpretation of single nucleotide polymorphism array results for diagnostic purposes, when consanguinity or inbreeding is identified.
We developed a web-based program that permits entry of regions of homozygosity and, using OMIM, UCSC, and NCBI databases, retrieves genes within these regions as well as their associated autosomal recessive disorders. Relevant OMIM Clinical Synopses can be searched, using key clinical terms permitting further filtering for candidate genes and disorders.
The tool aids the clinician by arriving at a short list of relevant candidate disorders, guiding the continued diagnostic work-up. Its efficacy is illustrated by presenting seven patients who were diagnosed using this tool.
The online single nucleotide polymorphism array evaluation tool rapidly and systematically identifies relevant genes and associated conditions mapping to identified regions of homozygosity. The built-in OMIM clinical feature search allows the user to further filter to reach a short list of candidate conditions relevant for the diagnosis, making it possible to strategize more focused diagnostic testing. The tabulated results can be downloaded and saved to the desktop in an Excel format. Its efficacy is illustrated by providing a few clinical examples.Genet Med 2013:15(5):354-360.
本报告描述了一种快速的在线工具，用于加速和改进临床解释单核苷酸多态性阵列结果，当发现亲缘关系或近亲结婚时，用于诊断目的。
我们开发了一个基于网络的程序，允许输入纯合区域，并使用 OMIM、UCSC 和 NCBI 数据库检索这些区域内的基因及其相关的常染色体隐性疾病。可以使用关键临床术语搜索相关的 OMIM 临床概要，进一步过滤候选基因和疾病。
该工具通过提供一小组相关候选疾病，帮助临床医生指导进一步的诊断工作，从而为临床医生提供帮助。通过介绍使用该工具诊断的七名患者来说明其功效。
在线单核苷酸多态性阵列评估工具可快速系统地识别与鉴定的纯合区域相关的基因和相关疾病。内置的 OMIM 临床特征搜索允许用户进一步过滤，以获得与诊断相关的候选疾病的简短列表，从而可以制定更有针对性的诊断测试策略。可以将表格化的结果以 Excel 格式下载并保存到桌面。通过提供一些临床实例来说明其功效。
遗传医学 2013:15(5):354-360。
