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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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書目詳細資料
發表在: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
格式: Artigo
語言:Inglês
出版: 2017
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在線閱讀: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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