Personalizing rare disease research: How genomics is revolutionizing the diagnosis and treatment of rare disease

Personalized Medicine

Volumn 9, Issue 8, 2012, Pages 805-819

  Dolled Filhart, Marisa P ^a   Lordemann, Amanda ^a,b   Dahl, William ^a,b   Haraksingh, Rajini Rani ^a,c   Ou Yang, Chih Wen ^a,d   Lin, Jimmy Cheng Ho ^a,b  

^a Rare Genomics Institute   (United States)

^b WASHINGTON UNIVERSITY SCHOOL OF MEDICINE   (United States)

^c STANFORD UNIVERSITY SCHOOL OF MEDICINE   (United States)

^d DUKE UNIVERSITY MEDICAL CENTER   (United States)

Author keywords

diagnosis; exome sequencing; genetics; genome; genomics; personalized medicine; rare disease

Indexed keywords

DRUG TARGETING; EXOME; GENE MAPPING; GENE SEQUENCE; GENE THERAPY; GENETIC ANALYSIS; GENOMICS; HOMOZYGOSITY; HUMAN; KARYOTYPE; MEDICAL TECHNOLOGY; PERSONALIZED MEDICINE; PRIORITY JOURNAL; RARE DISEASE; REVIEW; SOCIOLOGY;

EID: 84869851171     PISSN: 17410541     EISSN: 1744828X     Source Type: Journal    
DOI: 10.2217/pme.12.97     Document Type: Review

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