Rapid whole genome sequencing and precision neonatology

Seminars in Perinatology

Volumn 39, Issue 8, 2015, Pages 623-631

  Petrikin, Joshua E ^a   Willig, Laurel K ^a   Smith, Laurie D ^b   Kingsmore, Stephen F ^c,d  

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

^b UNIVERSITY OF NORTH CAROLINA SCHOOL OF MEDICINE   (United States)

^c RADY CHILDREN'S HOSPITAL   (United States)

^d CHILDREN S MERCY HOSPITAL   (United States)

Author keywords

Genetic diagnosis; Genetic testing; Genomics; Neonatology; Precision Medicine

Indexed keywords

CORTICOSTEROID; IMMUNOGLOBULIN;

BLOOD CLOTTING DISORDER; CHD7 GENE; CLINICAL TRIAL (TOPIC); COMPUTER PROGRAM; CONGENITAL MALFORMATION; CORTICOSTEROID THERAPY; DIAGNOSTIC ACCURACY; GENE; GENE FREQUENCY; GENE SEQUENCE; GENETIC ANALYZER; GENETIC DISORDER; GENETIC SCREENING; GENETIC VARIABILITY; GENOTYPE; HEALTH CARE COST; HEMOPHAGOCYTIC SYNDROME; HUMAN; HYPERINSULINISM; HYPOGLYCEMIA; INCIDENCE; LENGTH OF STAY; LIVER FAILURE; MOLECULAR DIAGNOSIS; MONOGENIC DISORDER; NEWBORN; OUTCOME ASSESSMENT; PALLIATIVE THERAPY; PANCREAS RESECTION; PATIENT CARE; PRACTICE GUIDELINE; PRECISION MEDICINE; PRIORITY JOURNAL; PTPN11 GENE; REVIEW; TYPE 1 FAMILIAL HYPERINSULINISM; WHOLE GENOME SEQUENCING; CRITICAL ILLNESS; DNA SEQUENCE; EPIDEMIOLOGY; FEMALE; GENETIC COUNSELING; GENETIC DISEASES, INBORN; GENETIC PREDISPOSITION; GENETICS; GENOME-WIDE ASSOCIATION STUDY; HUMAN GENOME; INFANT; MALE; MORTALITY; NEONATOLOGY; NEWBORN INTENSIVE CARE; PREGNANCY; PROCEDURES; STANDARDS; TRENDS;

CRITICAL ILLNESS; FEMALE; GENETIC COUNSELING; GENETIC DISEASES, INBORN; GENETIC PREDISPOSITION TO DISEASE; GENETIC TESTING; GENOME, HUMAN; GENOME-WIDE ASSOCIATION STUDY; HUMANS; INFANT; INFANT, NEWBORN; INTENSIVE CARE, NEONATAL; MALE; NEONATOLOGY; PREGNANCY; SEQUENCE ANALYSIS, DNA;

EID: 84946747977     PISSN: 01460005     EISSN: 1558075X     Source Type: Journal    
DOI: 10.1053/j.semperi.2015.09.009     Document Type: Review

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