title: A clinical evaluation tool for SNP arrays, especially for autosomal recessive conditions in offspring of consanguineous parents.
abstract: OBJECTIVE
  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.
  
  
  CONCLUSIONS
  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.
authors.affiliation: Section of Genetics, Department of Pediatrics, University of Oklahoma, Oklahoma City, OK, USA. Klaas-Wierenga@ouhsc.edu
authors.forename: Klaas J
authors.initials: KJ
authors.lastname: Wierenga
authors.forename: Zhijie
authors.initials: Z
authors.lastname: Jiang
authors.forename: Amy C
authors.initials: AC
authors.lastname: Yang
authors.forename: John J
authors.initials: JJ
authors.lastname: Mulvihill
authors.forename: Nicholas F
authors.initials: NF
authors.lastname: Tsinoremas
mesh_terms: D000465:Algorithms; D002648:Child; D002675:Child, Preschool; D003241:Consanguinity; D030561:Databases, Nucleic Acid; D005260:Female; D005808:Genes, Recessive; D033142:Genetic Services; D006720:Homozygote; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D020407:Internet; D008297:Male; D008490:Medical Informatics / Q000379:methods; D020641:Polymorphism, Single Nucleotide; D012984:Software