Author: Genomics England Research Consortium

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Preprints

Age and Sex Differences in the Genetics of Cardiomyopathy

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Functional and in-silico interrogation of rare genomic variants impacting RNA splicing for the diagnosis of genomic disorders

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Non-coding variants upstream of MEF2C cause severe developmental disorder through three distinct loss-of-function mechanisms

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Genomic loci susceptible to systematic sequencing bias in clinical whole genomes

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Whole genome sequencing for diagnosis of neurological repeat expansion disorders

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Whole genome sequencing delineates regulatory and novel genic variants in childhood cardiomyopathy

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New pathogenic variants and insights into pathogenic mechanisms in GRK1-related Oguchi disease

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Harnessing the 100,000 Genomes Project whole genome sequencing data - an unbiased systematic tool to filter by biologically validated regions of functionality

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Delineating the molecular and phenotypic spectrum of the SETD1B-related syndrome

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KidneyNetwork: Using kidney-derived gene expression data to predict and prioritize novel genes involved in kidney disease

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