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Author: James S Ware

Rankings

  • All-time downloads: 59,354 (rank: 598 out of 380,089)
  • Categories:
    • bioinformatics: 219 (rank: 28,067 (tie) out of 32,573)
    • genetics: 4,443 (rank: 3,566 out of 35,084)
    • genomics: 54,692 (rank: 114 out of 40,563)

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Preprints

The mutational constraint spectrum quantified from variation in 141,456 humans

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    • Site-wide: 138 out of 88,646
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Analysis of protein-coding genetic variation in 60,706 humans

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    • In genomics: 9 out of 5,656
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Using high-resolution variant frequencies to empower clinical genome interpretation

genomics more details view paper
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    • In genomics: 175 out of 5,656
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Characterising the loss-of-function impact of 5’ untranslated region variants in 15,708 individuals

genomics more details view paper
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    • In genomics: 382 out of 5,656
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Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples

genetics more details view paper
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Human loss-of-function variants suggest that partial LRRK2 inhibition is a safe therapeutic strategy for Parkinson’s disease

genomics more details view paper
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    • Site-wide: 8,503 out of 88,646

Gene family information facilitates variant interpretation and identification of disease-associated genes

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    • Site-wide: 63,248 out of 88,646

CardioClassifier: demonstrating the power of disease- and gene-specific computational decision support for clinical genome interpretation

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    • Site-wide: 59,227 out of 88,646

Response to Shah et al: Using high-resolution variant frequencies empowers clinical genome interpretation and enables investigation of genetic architecture

genomics more details view paper
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    • In genomics: 2,523 out of 5,656
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    • Site-wide: 73,908 out of 88,646

Quantitative approaches to variant classification increase the yield and precision of genetic testing in Mendelian diseases: The case of hypertrophic cardiomyopathy

genetics more details view paper
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    • Site-wide: 26,770 out of 88,646

Disease-specific variant pathogenicity prediction significantly improves variant interpretation in inherited cardiac conditions

genetics more details view paper
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    • Site-wide: 44,994 out of 88,646
    • In genetics: 2,614 out of 4,596
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    • Site-wide: 6,404 out of 88,646
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    • Site-wide: 18,698 out of 88,646

Annotating high-impact 5'untranslated region variants with the UTRannotator

bioinformatics more details view paper
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    • In bioinformatics: 6,834 out of 8,385
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    • Site-wide: 1,073 out of 88,646

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