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;...

Deskribapen osoa

Gorde:
Xehetasun bibliografikoak
Egile Nagusiak: 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.
Formatua: Artigo
Hizkuntza:Inglês
Argitaratua: 2011
Gaiak:
Article
Sarrera elektronikoa: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
Etiketak: Etiketa erantsi
Etiketarik gabe, Izan zaitez lehena erregistro honi etiketa jartzen!

Antzeko izenburuak