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

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 patient

SUBMITTER: Wierenga KJ 

PROVIDER: S-EPMC3908554 | biostudies-literature | 2013 May

REPOSITORIES: biostudies-literature