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Genome sequencing and carrier testing: decisions on categorization and whether to disclose results of carrier testing
PURPOSE: We investigated the use of genome sequencing for preconception carrier testing. Genome sequencing could identify one or more of thousands of X-linked or autosomal recessive conditions that could be disclosed during preconception or prenatal counseling. Therefore, a framework that helps both...
Autores principales: | , , , , , , , , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Nature Publishing Group
2017
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5509491/ https://www.ncbi.nlm.nih.gov/pubmed/28079899 http://dx.doi.org/10.1038/gim.2016.198 |