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Author: Michael N Weedon

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  • All-time downloads: 6,624 (rank: 13,345 (tie) out of 381,221)
  • Categories:
    • bioinformatics: 830 (rank: 12,892 (tie) out of 32,686)
    • genetics: 4,289 (rank: 3,664 (tie) out of 35,237)
    • genomics: 1,505 (rank: 11,963 (tie) out of 40,681)

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Preprints

Assessing the pathogenicity, penetrance and expressivity of putative disease-causing variants in a population setting

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Mosaic Turner syndrome shows reduced phenotypic penetrance in an adult population study compared to clinically ascertained cases

genetics more details view paper
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HUMAN LONGEVITY IS INFLUENCED BY MANY GENETIC VARIANTS: EVIDENCE FROM 75,000 UK BIOBANK PARTICIPANTS

genomics more details view paper
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SavvyCNV: genome-wide CNV calling from off-target reads

bioinformatics more details view paper
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Heterozygous RFX6 protein truncating variants cause Maturity-Onset Diabetes of the Young (MODY) with reduced penetrance

genetics more details view paper
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Using structural analysis in silico to assess the impact of missense variants in MEN1

genetics more details view paper
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    • Site-wide: 19,111 out of 88,923

Assessing performance of pathogenicity predictors using clinically-relevant variant datasets

genomics more details view paper
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