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

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 homo...

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Detalles Bibliográficos
Autores principales: Wierenga, Klaas J., Jiang, Zhijie, Yang, Amy C., Mulvihill, John J., Tsinoremas, Nicholas F.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group 2013
Materias:
Original Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3908554/
https://www.ncbi.nlm.nih.gov/pubmed/23100014
http://dx.doi.org/10.1038/gim.2012.136

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3908554/
https://www.ncbi.nlm.nih.gov/pubmed/23100014
http://dx.doi.org/10.1038/gim.2012.136

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