Technology-Driven and Evidence-Based Genomic Analysis for Integrated Pediatric and Prenatal Genetics Evaluation

Journal of Genetics and Genomics

Volumn 40, Issue 1, 2013, Pages 1-14

  Wei, Yuan ^a,b   Xu, Fang ^a   Li, Peining ^a  

^a YALE UNIVERSITY SCHOOL OF MEDICINE   (United States)

^b PEKING UNIVERSITY THIRD HOSPITAL   (China)

Author keywords

Analytical and clinical validity; Evidence based standards and guidelines; Genomic analysis; Integrated genetic evaluation

Indexed keywords

AUTISM; CHROMOSOME ANALYSIS; COMPARATIVE GENOMIC HYBRIDIZATION; CONGENITAL MALFORMATION; COPY NUMBER VARIATION; CYTOGENETICS; DEVELOPMENTAL DISORDER; DIABETES MELLITUS; DIAGNOSTIC VALUE; DIGEORGE SYNDROME; DNA EXTRACTION; DNA HYBRIDIZATION; DNA MICROARRAY; EPILEPSY; EVIDENCE BASED PRACTICE; GENE DELETION; GENE DUPLICATION; GENE SEQUENCE; GENETIC ANALYSIS; GENETIC ASSOCIATION; GENETIC DISORDER; HAPPY PUPPET SYNDROME; HETEROZYGOSITY LOSS; HOMOLOGOUS RECOMBINATION; HUMAN; HUMAN GENOME PROJECT; INTELLECTUAL IMPAIRMENT; INTERMETHOD COMPARISON; KARYOTYPING; KIDNEY CYST; MALFORMATION SYNDROME; MEDICAL DEVICE; MENTAL DISEASE; MOSAICISM; OBESITY; PEDIATRICS; PRACTICE GUIDELINE; PRADER WILLI SYNDROME; PRENATAL DIAGNOSIS; QUALITY CONTROL; REVIEW; SCHIZOPHRENIA; SEGMENTAL DUPLICATION; SENSITIVITY AND SPECIFICITY; SINGLE NUCLEOTIDE POLYMORPHISM; SMITH MAGENIS SYNDROME; TECHNOLOGY; ULTRASOUND; UNDERWEIGHT; UNIPARENTAL DISOMY; VALIDITY; WILLIAMS BEUREN SYNDROME; WORKFLOW;

FEMALE; GENOMICS; HUMANS; PEDIATRICS; PRACTICE GUIDELINES AS TOPIC; PREGNANCY; PRENATAL DIAGNOSIS; QUALITY CONTROL; REPRODUCIBILITY OF RESULTS;

EID: 84873058081     PISSN: 16738527     EISSN: 18735533     Source Type: Journal    
DOI: 10.1016/j.jgg.2012.12.004     Document Type: Review

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