Author: David N. Cooper

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Preprints

Analysis of protein-coding genetic variation in 60,706 humans

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MutPred2: inferring the molecular and phenotypic impact of amino acid variants

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AMELIE accelerates Mendelian patient diagnosis directly from the primary literature

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Developmental gene expression differences between humans and mammalian models

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AVADA Enables Automated Genetic Variant Curation Directly from the Full Text Literature

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Proteins linked to autosomal dominant and autosomal recessive disorders harbor characteristic rare missense mutation distribution patterns

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S-CAP extends clinical-grade pathogenicity prediction to genetic variants that affect RNA splicing

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First estimation of the scale of canonical 5' splice site GT>GC mutations generating wild-type transcripts and their medical genetic implications

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RegSNPs-Intron: A Computational Framework For Prioritizing Intronic Single Nucleotide Variants in Human Genetic Disease

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AMELIE 2 speeds up Mendelian diagnosis by matching patient phenotype & genotype to primary literature

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The experimentally obtained functional impact assessments of GT>GC 5' splice site variants differ markedly from those predicted

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Genetic analysis of the STIM1 gene in chronic pancreatitis

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5' splice site GC>GT variants differ from GT>GC variants in terms of their functionality and pathogenicity

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PIVOTAL: Prioritizing variants of uncertain significance with spatial genomic patterns in the 3D proteome

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RNA secondary structure mediated by Alu insertion as a novel disease-causing mechanism

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