Rapid Whole-Genome Sequencing for Genetic Disease Diagnosis in Neonatal Intensive Care Units

Abstract

Rapid whole-genome sequencing of neonates can shorten time to genetic disease diagnosis and thus genetic and prognostic counseling.

Keywords

MedicineDiseaseMedical diagnosisWhole genome sequencingDifferential diagnosisGenetic heterogeneityIntensive careGenetic counselingIntensive care medicinePediatricsBioinformaticsGeneticsGenomeGeneBiologyPathologyPhenotype

MeSH Terms

Connexin 26ConnexinsGenetic DiseasesInbornGenomeHumanHumansInfantNewbornIntensive Care UnitsNeonatalRetrospective StudiesSequence AnalysisDNA

Affiliated Institutions

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Publication Info

Year: 2012
Type: article
Volume: 4
Issue: 154
Pages: 154ra135-154ra135
Citations: 657
Access: Closed

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APA Style

                            
                                
                                    Carol Saunders, 
                                
                                    Neil Miller, 
                                
                                    Sarah Soden
                                
                                et al.
                            
                            (2012). 
                            Rapid Whole-Genome Sequencing for Genetic Disease Diagnosis in Neonatal Intensive Care Units. 
                            Science Translational Medicine
                            , 4
                            (154)
                            , 154ra135-154ra135.
                            https://doi.org/10.1126/scitranslmed.3004041
                        

Identifiers

DOI: 10.1126/scitranslmed.3004041
PMID: 23035047
PMCID: PMC4283791

Data Quality

Data completeness: 86%