Next-generation sequencing applied to rare diseases genomics

Expert Review of Molecular Diagnostics

Volumn 14, Issue 4, 2014, Pages 469-487

  Danielsson, Krissi ^a   Mun, Liew Jun ^a   Lordemann, Amanda ^a   Mao, Jimmy ^a   Lin, Cheng Ho Jimmy ^a  

^a Rare Genomics Institute   (United States)

Author keywords

bioethics; diagnostics; genomics; next generation sequencing; rare diseases

Indexed keywords

AUTOSOMAL DISORDER; BIOETHICS; CARDIOVASCULAR DISEASE; COLOR BLINDNESS; COMPUTER PROGRAM; CROHN DISEASE; DERMATOLOGY; DISEASES; DNA HYBRIDIZATION; DNA SEQUENCE; ENTERITIS; ETHICS; EXOME; FAMILIAL DISEASE; GASTROINTESTINAL DISEASE; GENE; GENETIC DISORDER; GENETIC VARIABILITY; GENOME; GENOMICS; HEALTH PROGRAM; HUMAN; HUMAN GENOME; INFLAMMATORY BOWEL DISEASE; INFORMED CONSENT; LABORATORY; LEBER CONGENITAL AMAUROSIS; LEIGH DISEASE; LIFE; METABOLIC DISORDER; MITOCHONDRION; NATIONAL HEALTH ORGANIZATION; NEUROLOGIC DISEASE; OPHTHALMOLOGY; PRIVACY; RARE DISEASE; RETINA DEGENERATION; REVIEW; SPRING; STARGARDT DISEASE; TECHNOLOGY; VITREORETINOPATHY; X RAY BONE DENSITOMETER; CONFIDENTIALITY; GENETIC SCREENING; GENETICS; HIGH THROUGHPUT SEQUENCING; MOLECULAR DIAGNOSIS; MUTATION; NUCLEOTIDE SEQUENCE; RARE DISEASES;

CONFIDENTIALITY; DNA MUTATIONAL ANALYSIS; GENETIC TESTING; GENOMICS; HIGH-THROUGHPUT NUCLEOTIDE SEQUENCING; HUMANS; INFORMED CONSENT; MOLECULAR DIAGNOSTIC TECHNIQUES; MUTATION; RARE DISEASES;

EID: 84898932006     PISSN: 14737159     EISSN: 17448352     Source Type: Journal    
DOI: 10.1586/14737159.2014.904749     Document Type: Review

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