Adopting orphans: Comprehensive genetic testing of Mendelian diseases of childhood by next-generation sequencing

Expert Review of Molecular Diagnostics

Volumn 11, Issue 8, 2011, Pages 855-868

  Kingsmore, Stephen F ^a   Dinwiddie, Darrell L ^a   Miller, Neil A ^a   Soden, Sarah E ^a   Saunders, Carol J ^a  

^a CHILDREN S MERCY HOSPITAL   (United States)

Author keywords

bioinformatics; carrier screening; Mendelian diseases; molecular diagnostics; next generation sequencing; orphan diseases

Indexed keywords

AUTOSOMAL RECESSIVE DISORDER; BIOINFORMATICS; CHILDHOOD DISEASE; DIAGNOSTIC TEST; GENE SEQUENCE; GENETIC ANALYSIS; GENETIC COUNSELING; GENETIC DISORDER; HUMAN; MOLECULAR DIAGNOSIS; MORBIDITY; MORTALITY; RARE DISEASE; REVIEW; SEQUENCE ANALYSIS; SYMPTOM; TECHNOLOGY; X CHROMOSOME LINKED DISORDER;

CHILD; CHILD, PRESCHOOL; DATABASES, GENETIC; GENETIC DISEASES, INBORN; GENETIC TESTING; GENETIC VARIATION; GENOTYPE; HUMANS; MOLECULAR DIAGNOSTIC TECHNIQUES; RARE DISEASES; SEQUENCE ANALYSIS, DNA;

EID: 80054958114     PISSN: 14737159     EISSN: 17448352     Source Type: Journal    
DOI: 10.1586/erm.11.70     Document Type: Review

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