Whole-exome sequencing and whole-genome sequencing in critically ill neonates suspected to have single-gene disorders

Cold Spring Harbor Perspectives in Medicine

Volumn 6, Issue 2, 2016, Pages

  Smith, Laurie D ^a,b   Willig, Laurel K ^a,b,c   Kingsmore, Stephen F ^a,b  

^a UNIVERSITY OF MISSOURI KANSAS CITY SCHOOL OF MEDICINE   (United States)

^b Center for Pediatric Genomic Medicine   (United States)

^c Division of Nephrology   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

DNA; MESSENGER RNA; NUCLEOTIDE;

ARTICLE; BIOINFORMATICS; CLINICAL FEATURE; CLINICAL TRIAL (TOPIC); COST EFFECTIVENESS ANALYSIS; CRITICALLY ILL PATIENT; EARLY DIAGNOSIS; EXOME; GENE FREQUENCY; GENE STRUCTURE; GENETIC BACKGROUND; GENETIC CODE; GENETIC COUNSELING; GENETIC DISORDER; GENOME ANALYSIS; GERMLINE MUTATION; GESTATIONAL AGE; HEALTH CARE COST; HOSPICE CARE; HUMAN; HUMAN GENOME; INBORN ERROR OF METABOLISM; INDEL MUTATION; INFANT MORTALITY; INHERITANCE; MISSENSE MUTATION; MONOGENIC DISORDER; MULTIFACTORIAL INHERITANCE; MUTATION RATE; NEWBORN; NEWBORN INTENSIVE CARE; NEWBORN MORTALITY; NEWBORN SCREENING; NEXT GENERATION SEQUENCING; NONSENSE MUTATION; PHENOTYPE; PRENATAL SCREENING; PROGNOSIS; PROTEIN FUNCTION; RECURRENCE RISK; RNA SPLICING; SEQUENCE ANALYSIS; SINGLE NUCLEOTIDE POLYMORPHISM; TERMINAL CARE; TERTIARY HEALTH CARE; WHOLE EXOME SEQUENCING; WHOLE GENOME SEQUENCING; CRITICAL ILLNESS; DNA MUTATIONAL ANALYSIS; FORECASTING; GENETIC DISEASES, INBORN; GENETIC SCREENING; GENETICS; GENOME-WIDE ASSOCIATION STUDY; MUTATION; PRENATAL DIAGNOSIS; PROCEDURES; TRENDS;

CRITICAL ILLNESS; DNA MUTATIONAL ANALYSIS; EARLY DIAGNOSIS; EXOME; FORECASTING; GENETIC DISEASES, INBORN; GENETIC TESTING; GENOME, HUMAN; GENOME-WIDE ASSOCIATION STUDY; HUMANS; INFANT, NEWBORN; MUTATION; NEONATAL SCREENING; PRENATAL DIAGNOSIS;

EID: 84956678780     PISSN: None     EISSN: 21571422     Source Type: Journal    
DOI: 10.1101/cshperspect.a023168     Document Type: Article

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