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Genomic newborn screening: Proposal of a two-stage approach

Christian P Schaaf1,2,3, Stefan Kölker4, Georg F Hoffmann4

  • 1Institute of Human Genetics, Heidelberg University, Heidelberg, Germany.

Journal of Inherited Metabolic Disease
|March 20, 2021
PubMed
Abstract

No abstract available in PubMed .

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Genetic screens are tools used to identify genes and mutations responsible for phenotypes of interest. Genetic screens help identify individuals or a group of people at risk of developing  genetic diseases and help them with early intervention, targeted therapy, and reproductive options.
Forward genetic screens
Forward or “classical” genetic screens involve creating random mutations in an organism’s DNA using radiation, mutagens, or insertion of additional bases, which...
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