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Genomic newborn screening for rare diseases

Zornitza Stark, Richard H. Scott

2023Nature Reviews Genetics209 citationsDOI

Topics & Concepts

Newborn screeningGenomic medicineBiologyGenomic sequencingGenomicsMedical diagnosisPsychosocialPopulationComputational biologyGenomeGeneticsMedicinePsychiatryPathologyGeneEnvironmental healthGenomics and Rare DiseasesGenomic variations and chromosomal abnormalitiesBRCA gene mutations in cancer
Genomic newborn screening for rare diseases | Litcius