ASHG Journals

Showing 1–12 of 27 results

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  A Transchromosomic Rat Model of Down Syndrome

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  Behind-the-Scenes: Publications Workshop

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  Canonical splice site variants: more than meets the eye

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  Common variant in Greenlanders impacts heart health

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  CRISPR activation to study splice-altering variants

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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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  Genetic Susceptibility to COVID-19 Vaccine Side Effects

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  Identifying Disease Risk Through Newborn Genomic Sequencing

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