Systematic reanalysis of clinical exome data yields additional diagnoses: Implications for providers

Genetics in Medicine

Volumn 19, Issue 2, 2017, Pages 209-214

  Wenger, Aaron M ^a   Guturu, Harendra ^a   Bernstein, Jonathan A ^a   Bejerano, Gill ^a,b  

^a STANFORD UNIVERSITY   (United States)

^b Stanford University   (United States)

Author keywords

Diagnostic yield; Exome; Reanalysis

Indexed keywords

INTERFERON INDUCED HELICASE C DOMAIN CONTAINING PROTEIN 1;

ADULT; AICARDI GOUTIERES SYNDROME; ARTICLE; AUTOSOMAL DOMINANT INHERITANCE; BRAIN ATROPHY; CHILD; CLINICAL ARTICLE; DATA ANALYSIS SOFTWARE; DEAF1 GENE; EXOME; FACE DYSMORPHIA; FEMALE; GENE; GENOME ANALYSIS; HEARING IMPAIRMENT; HUMAN; HYPERTRICHOSIS; INTELLECTUAL IMPAIRMENT; KMT2A GENE; MALE; MENTAL DEFICIENCY; MICROCEPHALY; MISSENSE MUTATION; PHENOTYPE; PIK3R1 GENE; PNEUMONIA; PRESCHOOL CHILD; SCHOOL CHILD; SHORT STATURE; SPASTICITY; SPEECH DELAY; SPEECH DISORDER; WHOLE EXOME SEQUENCING; YOUNG ADULT; DNA SEQUENCE; GENETIC DISORDER; GENETICS; INFANT; MEDICAL GENETICS; MUTATION; PATHOLOGY; PEDIGREE; STANDARDS;

CHILD; CHILD, PRESCHOOL; EXOME; FEMALE; GENETIC DISEASES, INBORN; GENETICS, MEDICAL; HUMANS; INFANT; MALE; MUTATION; PEDIGREE; SEQUENCE ANALYSIS, DNA; WHOLE EXOME SEQUENCING;

EID: 85011796891     PISSN: 10983600     EISSN: 15300366     Source Type: Journal    
DOI: 10.1038/gim.2016.88     Document Type: Article

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