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Article

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

Genetics in medicine : official journal of the American College of Medical Genetics - 1 May 2013

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

Abstract excerpt

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...

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Identifiers

PMID: 23100014
DOI: 10.1038/gim.2012.136
PMCID: PMC3908554

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

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