Whole-genome sequencing for optimized patient management.
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ABSTRACT:
SUBMITTER: Bainbridge MN
PROVIDER: S-EPMC3314311 | biostudies-literature | 2011 Jun
REPOSITORIES: biostudies-literature
Publications
Whole-genome sequencing for optimized patient management.
Bainbridge Matthew N MN Wiszniewski Wojciech W Murdock David R DR Friedman Jennifer J Gonzaga-Jauregui Claudia C Newsham Irene I Reid Jeffrey G JG Fink John K JK Morgan Margaret B MB Gingras Marie-Claude MC Muzny Donna M DM Hoang Linh D LD Yousaf Shahed S Lupski James R JR Gibbs Richard A RA
Science translational medicine 20110601 87
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; Mendelian Inheritance in Man #128230). DRD is a genetically heterogeneous and clinically complex movement disorder that is usually treated with l-dopa, a precursor of the neurotransmitter dopamine. W ...[more]
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