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Whole exome and whole genome sequencing with dried blood spot DNA without whole genome amplification

Newborn screening for rare conditions is performed in all 50 states in the USA. We have partnered with the California Department of Public Health Genetic Disease Laboratory to determine whether sufficient DNA can be extracted from archived dried blood spots for next generation sequencing in the hope...

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Detalhes bibliográficos
Publicado no:Hum Mutat
Main Authors: Bassaganyas, Laia, Freedman, George, Vaka, Dedeepya, Wan, Eunice, Lao, Richard, Chen, Flavia, Kvale, Mark, Currier, Robert J., Puck, Jennifer M., Kwok, Pui-Yan
Formato: Artigo
Idioma:Inglês
Publicado em: 2017
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5738671/
https://ncbi.nlm.nih.gov/pubmed/29067733
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/humu.23356
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