ASHG Journals

Showing 13–24 of 28 results

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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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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Stakeholders’ Views on Returning Polygenic Risk Scores
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Targeted long-read sequencing of the Ewing sarcoma 6p25.1 susceptibility locus identifies germline-somatic interactions with EWSR1-FLI1 binding
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The impact of clinical genome sequencing in a global population with suspected rare genetic disease
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