Genomic testing leads clinical care in neonatal diabetes: a new paradigm

Genomic testing leads clinical care in neonatal diabetes: a new paradigm

2015 | De Franco E1, Flanagan SE1, Houghton JAL1, Lango Allen H1, Mackay DJG2,3, Temple IK3,4, Ellard S1 and Hattersley AT1
This supplementary appendix to the study by De Franco et al. (2015) provides additional information and data supporting the main findings. It includes supplementary figures, tables, and methods that were not included in the original publication. The figures illustrate the cohort's genetic testing pipeline, the time from diagnosis to referral for genetic testing, and the increase in worldwide referrals over time. The tables list countries with high prevalence of consanguineous unions and provide details on the genetic causes of neonatal diabetes identified in the cohort. The methods section describes the sequencing and analysis protocols used to identify genetic mutations. The references section cites key studies related to neonatal diabetes and its genetic causes. Overall, the supplementary material enhances the understanding of the clinical care implications of early, comprehensive genomic testing in neonatal diabetes.This supplementary appendix to the study by De Franco et al. (2015) provides additional information and data supporting the main findings. It includes supplementary figures, tables, and methods that were not included in the original publication. The figures illustrate the cohort's genetic testing pipeline, the time from diagnosis to referral for genetic testing, and the increase in worldwide referrals over time. The tables list countries with high prevalence of consanguineous unions and provide details on the genetic causes of neonatal diabetes identified in the cohort. The methods section describes the sequencing and analysis protocols used to identify genetic mutations. The references section cites key studies related to neonatal diabetes and its genetic causes. Overall, the supplementary material enhances the understanding of the clinical care implications of early, comprehensive genomic testing in neonatal diabetes.
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[slides and audio] Supplementary Appendix