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

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

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

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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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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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Identifying novel high-impact rare disease-causing mutations, genes and pathways in exomes of Ashkenazi Jewish inflammatory bowel disease patients

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  • In genetic and genomic medicine: 213
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Identification of Discriminative Gene-level and Protein-level Features Associated with Gain-of-Function and Loss-of-Function Mutations

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  • In genetics: 3,350
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PIVOTAL: Prioritizing variants of uncertain significance with spatial genomic patterns in the 3D proteome

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

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Role of the common PRSS1-PRSS2 haplotype in alcoholic and non-alcoholic chronic pancreatitis: meta- and re-analyses

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  • Site-wide: 110,412
  • In gastroenterology: 126
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AMELIE 3: Fully Automated Mendelian Patient Reanalysis at Under 1 Alert per Patient per Year

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  • In genetic and genomic medicine: 499
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The reversion variant (p.Arg90Leu) at the evolutionarily adaptive p.Arg90 site in CELA3B predisposes to chronic pancreatitis

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  • Site-wide: 122,721
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