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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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| Main Authors: | , , , , |
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| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Nature Publishing Group
2013
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3908554/ https://ncbi.nlm.nih.gov/pubmed/23100014 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/gim.2012.136 |
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