Large-scale whole-genome sequencing reveals the landscape and health implications of de novo mutations

Intracytoplasmic Sperm Injection (ICSI) under an inverted light microscope

Large-scale whole-genome sequencing reveals the landscape and health implications of de novo mutations De novo mutations (DNMs), spontaneous genetic alterations arising in the germline or early embryonic development that are absent in parental genomes, are a critical driver of congenital diseases and developmental disorders. With global trends shifting toward delayed …

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