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


Ontology type: schema:ScholarlyArticle      Open Access: True


Article Info

DATE

2013-05

AUTHORS

Klaas J. Wierenga, Zhijie Jiang, Amy C. Yang, John J. Mulvihill, Nicholas F. Tsinoremas

ABSTRACT

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. 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. 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. 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.Genet Med 2013:15(5):354-360. More... »

PAGES

354

Identifiers

URI

http://scigraph.springernature.com/pub.10.1038/gim.2012.136

DOI

http://dx.doi.org/10.1038/gim.2012.136

DIMENSIONS

https://app.dimensions.ai/details/publication/pub.1041200927

PUBMED

https://www.ncbi.nlm.nih.gov/pubmed/23100014


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