A clinical evaluation tool for SNP arrays, especially for autosomal recessive conditions in offspring of consanguineous parents.
A clinical evaluation tool for SNP arrays, especially for autosomal recessive conditions in offspring of consanguineous parents.
复制标题
DOI：
10.1038/gim.2012.136
复制
发表时间：
2013-05
期刊：
影响因子：
--
通讯作者：
中科院分区：
文献类型：
--
作者：
这份报告描述了一种快速在线工具，用于加速和改进单核苷酸多态阵列结果的临床解释，用于诊断目的，当确定血缘关系或近亲繁殖时。我们开发了一个基于网络的程序，允许输入纯合子区域，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遗传病。可以搜索相关的OMIM临床概要，使用允许进一步筛选候选基因和疾病的关键临床术语。该工具通过得出相关候选障碍的简短列表来帮助临床医生，指导继续的诊断工作。它的有效性通过介绍使用该工具诊断的七名患者来说明。在线单核苷酸多态阵列评估工具快速和系统地识别相关基因和相关条件，这些基因和相关条件映射到已识别的纯合区域。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条件的简短列表，从而有可能制定更有针对性的诊断测试策略。表格结果可以下载并以Excel格式保存到桌面。通过几个临床实例说明了它的有效性。
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.
登录
查看更多内容
影响因子：
14.8
作者：
Kumar, Prateek;Henikoff, Steven;Ng, Pauline C.
通讯作者：
Ng, Pauline C.
影响因子：
9.8
作者：
Robinson, Peter N.;Koehler, Sebastian;Mundlos, Stefan
通讯作者：
Mundlos, Stefan
影响因子：
3
作者：
Huqun;Fukuyama, Shun-ichiro;Hagiwara, Koichi
通讯作者：
Hagiwara, Koichi
影响因子：
56.9
作者：
Collins, FS;Morgan, M;Patrinos, A
通讯作者：
Patrinos, A
影响因子：
8.8
作者：
Alkuraya, Fowzan S.
通讯作者：
Alkuraya, Fowzan S.