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Updated: Mar 3, 2026

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
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Operationalizing the Wilson-Jungner principles for the genomics era: Consensus recommendations from the International

Lilian Downie1, Julie Yeo2, Thomas Minten3

  • 1Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, Australia; Department of Pediatrics, University of Melbourne, Melbourne, Australia.

Genetics in Medicine : Official Journal of the American College of Medical Genetics
|March 1, 2026
PubMed
Abstract

Keywords:
Delphi techniqueGene selectionGenomic sequencingNewborn screening

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