Whole-Genome Sequencing for Optimized Patient Management

Whole-genome sequencing of patient DNA can facilitate diagnosis of a disease, but its potential for guiding treatment has been under-realized. We interrogated the complete genome sequences of a 14-year-old fraternal twin pair diagnosed with dopa (3,4-dihydroxyphenylalanine)–responsive dystonia (DRD;...

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Detalhes bibliográficos
Main Authors: Bainbridge, Matthew N., Wiszniewski, Wojciech, Murdock, David R., Friedman, Jennifer, Gonzaga-Jauregui, Claudia, Newsham, Irene, Reid, Jeffrey G., Fink, John K., Morgan, Margaret B., Gingras, Marie-Claude, Muzny, Donna M., Hoang, Linh D., Yousaf, Shahed, Lupski, James R., Gibbs, Richard A.
Formato: Artigo
Idioma:Inglês
Publicado em: 2011
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3314311/
https://ncbi.nlm.nih.gov/pubmed/21677200
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1126/scitranslmed.3002243
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