Challenges of using whole genome sequencing in population newborn screening

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Challenges of using whole genome sequencing in population newborn screening

Horton, Rachel; Wright, Caroline F; Firth, Helen V; Turnbull, Clare; Lachmann, Robin; Houlston, Richard S; Lucassen, Anneke

BMJ (Online), 03/2024, Volume: 384

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Rachel Horton and colleagues argue that making sense of genomic variation in newborn babies is difficult, so the UK Generation Study will analyse only a tiny proportion of the genome. Why then is it collecting entire genomes?

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