Comprehensive gene panels provide advantages over clinical exome sequencing for Mendelian diseases

Genome Biology

Volumn 16, Issue 1, 2015, Pages

[No Author Info available]

Author keywords

[No Author keywords available]

Indexed keywords

ADULT; ARTICLE; AUTOSOMAL DOMINANT INHERITANCE; BIOASSAY; BONE DYSPLASIA; CARDIOVASCULAR DISEASE; CHILD; CONSANGUINITY; CONTROLLED STUDY; ENDOCRINE DISEASE; EXOME; FEMALE; GASTROINTESTINAL DISEASE; GENE; GENE IDENTIFICATION; GENE MUTATION; GENETIC ASSOCIATION; GENETIC DISORDER; HEARING IMPAIRMENT; HEMATOLOGIC DISEASE; HUMAN; IMMUNE DEFICIENCY; KIDNEY DISEASE; LUNG DISEASE; MAJOR CLINICAL STUDY; MALE; MENDELIAN GENE; MENDELIOME ASSAY; NEUROLOGIC DISEASE; NEXT GENERATION SEQUENCING; PATHOGENESIS; POPULATION RESEARCH; SENSITIVITY ANALYSIS; SEQUENCE ANALYSIS; SKIN DISEASE; VISUAL DISORDER; WHOLE EXOME SEQUENCING; X CHROMOSOME LINKED DISORDER; DNA SEQUENCE; EVALUATION STUDY; GENETICS; HIGH THROUGHPUT SEQUENCING; MOLECULAR GENETICS; PROCEDURES; SENSITIVITY AND SPECIFICITY;

EXOME; GENES; GENETIC DISEASES, INBORN; HIGH-THROUGHPUT NUCLEOTIDE SEQUENCING; HUMANS; MOLECULAR SEQUENCE ANNOTATION; SENSITIVITY AND SPECIFICITY; SEQUENCE ANALYSIS, DNA;

EID: 84936850971     PISSN: 14747596     EISSN: 1474760X     Source Type: Journal    
DOI: 10.1186/s13059-015-0693-2     Document Type: Article

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