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Newborn Screening Using Genome Sequencing for Early Actionable Conditions—Reply
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Newborn Screening Using Genome Sequencing for Early Actionable Conditions
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Reanalysis of unsolved prenatal exome sequencing for structural defects: diagnostic yield and contribution of postnatal/postmortem features
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Expanded Newborn Screening Using Genome Sequencing for Early Actionable Conditions
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Emerging technologies for prenatal diagnosis: The application of whole genome and RNA sequencing
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Making large language models into reliable physician assistants
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Diversity and consequences of structural variation in the human genome
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GATK-gCNV enables the discovery of rare copy number variants from exome sequencing data
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