A clinical evaluation tool for SNP arrays, especially for autosomal recessive conditions in offspring of consanguineous parents

作者：Wierenga Klaas J^*; Jiang Zhijie; Yang Amy C; Mulvihill John J; Tsinoremas Nicholas F

来源：Genetics in Medicine, 2013, 15(5): 354-360.

DOI：10.1038/gim.2012.136

• consanguinity
• homozygosity
• inbreeding
• OMIM
• SNP array

Purpose: 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. %26lt;br%26gt;Methods: 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. %26lt;br%26gt;Results: 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. %26lt;br%26gt;Conclusion: 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.

• 出版日期2013-5