Showing 13–24 of 31 results
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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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Massively parallel reporter assays and variant scoring identified functional variants and target genes for melanoma loci and highlighted cell-type specificity
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New Insights Into Preeclampsia Genetic Risk Factors
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Non-coding Variants Disrupt GATA4 Regulatory Functions
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Overview of the PRIMED Consortium: Reducing disparities in polygenic risk assessment
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Population-Level Study of Developmental Stuttering
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Population-Scale Discovery of Genetic Risk Factors
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Prioritization of non-coding elements involved in non-syndromic cleft lip with/without cleft palate through genome-wide analysis of de novo mutations
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Regulatory features aid interpretation of 3’UTR variants
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Stability of Polygenic Scores Across Discovery GWAS
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