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High-Quality Exome Sequencing of Whole-Genome Amplified Neonatal Dried Blood Spot DNA
Stored neonatal dried blood spot (DBS) samples from neonatal screening programmes are a valuable diagnostic and research resource. Combined with information from national health registries they can be used in population-based studies of genetic diseases. DNA extracted from neonatal DBSs can be ampli...
Autores principales: | Poulsen, Jesper Buchhave, Lescai, Francesco, Grove, Jakob, Bækvad-Hansen, Marie, Christiansen, Michael, Hagen, Christian Munch, Maller, Julian, Stevens, Christine, Li, Shenting, Li, Qibin, Sun, Jihua, Wang, Jun, Nordentoft, Merete, Werge, Thomas Mears, Mortensen, Preben Bo, Børglum, Anders Dupont, Daly, Mark, Hougaard, David Michael, Bybjerg-Grauholm, Jonas, Hollegaard, Mads Vilhelm |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Public Library of Science
2016
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4835089/ https://www.ncbi.nlm.nih.gov/pubmed/27089011 http://dx.doi.org/10.1371/journal.pone.0153253 |
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