Scientific
Showing 25–36 of 90 results
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Developmental Genomics of Congenital Limb Malformations
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Enhanced genetic diagnosis through RNA-seq analysis of transdifferentiated cells
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Evaluating and improving health equity and fairness of polygenic scores
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Exome CNV detection and classification in rare diseases
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Exploring Patterns of Mosaicism in One Million People
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Genes In People In Places In Societies and Why It All Matters
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Genetic Susceptibility to COVID-19 Vaccine Side Effects
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Genome-based newborn screening for severe, actionable, childhood genetic diseases in a NICU pilot study
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Identifying Disease Risk Through Newborn Genomic Sequencing
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In vivo correction of human phenylketonuria variants via base and prime editing
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Introduction to the GA4GH Variation Representation Specification (VRS)
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Invited Talks Available On-Demand
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