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Whole-genome sequencing in newborn screening? A statement on the continued importance of targeted approaches in newborn screening programmes
The advent and refinement of sequencing technologies has resulted in a decrease in both the cost and time needed to generate data on the entire sequence of the human genome. This has increased the accessibility of using whole-genome sequencing and whole-exome sequencing approaches for analysis in bo...
Autores principales: | Howard, Heidi Carmen, Knoppers, Bartha Maria, Cornel, Martina C, Wright Clayton, Ellen, Sénécal, Karine, Borry, Pascal |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Nature Publishing Group
2015
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4795188/ https://www.ncbi.nlm.nih.gov/pubmed/25626707 http://dx.doi.org/10.1038/ejhg.2014.289 |
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