Whole-genome sequencing may be the fastest way to diagnose rare complex diseases, but should it be incorporated into healthy newborn screening?
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Seydel, C. Baby’s first genome. Nat Biotechnol 40, 636–640 (2022). https://doi.org/10.1038/s41587-022-01306-1
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DOI: https://doi.org/10.1038/s41587-022-01306-1
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Populational pan-ethnic screening panel enabled by deep whole genome sequencing
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