Carrier Testing for Severe Childhood Recessive Diseases by Next-Generation Sequencing

Abstract

Carrier testing for 448 severe childhood recessive diseases by next-generation sequencing has good predictive value and suggests that every individual carries about three disease mutations.

Keywords

Carrier testingDNA sequencingGenetic testingMedicineDiseasePredictive valueGeneticsBiologyGeneInternal medicinePrenatal diagnosisPregnancy

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Publication Info

Year: 2011
Type: article
Volume: 3
Issue: 65
Pages: 65ra4-65ra4
Citations: 699
Access: Closed

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APA Style

                            
                                
                                    Callum J. Bell, 
                                
                                    Darrell L. Dinwiddie, 
                                
                                    Neil Miller
                                
                                et al.
                            
                            (2011). 
                            Carrier Testing for Severe Childhood Recessive Diseases by Next-Generation Sequencing. 
                            Science Translational Medicine
                            , 3
                            (65)
                            , 65ra4-65ra4.
                            https://doi.org/10.1126/scitranslmed.3001756
                        

Identifiers

DOI: 10.1126/scitranslmed.3001756