ASHG Journals

Showing 13–24 of 33 results

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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Genetic Susceptibility to COVID-19 Vaccine Side Effects
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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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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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