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

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

Research output: Contribution to journalArticle

36 Citations (Scopus)

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.

Original languageEnglish (US)
Pages (from-to)354-360
Number of pages7
JournalGenetics in Medicine
Volume15
Issue number5
DOIs
StatePublished - May 1 2013
Externally publishedYes

Fingerprint

Genetic Databases
Single Nucleotide Polymorphism
Parents
Genes
Consanguinity
Inbreeding
Databases

Keywords

  • consanguinity
  • homozygosity
  • inbreeding
  • OMIM
  • SNP array

ASJC Scopus subject areas

  • Genetics(clinical)

Cite this

A clinical evaluation tool for SNP arrays, especially for autosomal recessive conditions in offspring of consanguineous parents. / Wierenga, Klaas J.; Jiang, Zhijie; Yang, Amy; Mulvihill, John J.; Tsinoremas, Nicholas F.

In: Genetics in Medicine, Vol. 15, No. 5, 01.05.2013, p. 354-360.

Research output: Contribution to journalArticle

Wierenga, Klaas J. ; Jiang, Zhijie ; Yang, Amy ; Mulvihill, John J. ; Tsinoremas, Nicholas F. / A clinical evaluation tool for SNP arrays, especially for autosomal recessive conditions in offspring of consanguineous parents. In: Genetics in Medicine. 2013 ; Vol. 15, No. 5. pp. 354-360.
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