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Author: Ayellet V Segre

Rankings

  • All-time downloads: 27,232 (rank: 8,039 )
  • Categories:
    • bioinformatics: 434 (rank: 33,046 (tie) )
    • cell biology: 4,098 (rank: 1,328 (tie) )
    • genetics: 8,097 (rank: 2,486 )
    • genomics: 14,378 (rank: 1,312 )
    • ophthalmology: 225 (rank: 857 (tie) )

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Preprints

ECLIPSER: identifying causal cell types and genes for complex traits through single cell enrichment of e/sQTL-mapped genes in GWAS loci

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Local genetic effects on gene expression across 44 human tissues

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    • Site-wide: 3,028
    • In genomics: 290
  • Year to date:
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Single-nucleus cross-tissue molecular reference maps to decipher disease gene function

cell biology more details view paper
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    • Site-wide: 3,515
    • In cell biology: 57
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Exploiting the GTEx resources to decipher the mechanisms at GWAS loci

genetics more details view paper
  • Downloaded 4,002 times
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    • In genetics: 120
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Distant regulatory effects of genetic variation in multiple human tissues

genomics more details view paper
  • Downloaded 2,911 times
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A systematic survey of human tissue-specific gene expression and splicing reveals new opportunities for therapeutic target identification and evaluation

genomics more details view paper
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    • Site-wide: 6,113
    • In genomics: 616
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Cell type specific genetic regulation of gene expression across human tissues

genomics more details view paper
  • Downloaded 2,787 times
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    • Site-wide: 6,117
    • In genomics: 617
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Widespread allelic heterogeneity in complex traits

genetics more details view paper
  • Downloaded 1,898 times
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    • Site-wide: 10,815
    • In genetics: 459
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Colocalization of GWAS and eQTL Signals Detects Target Genes

genetics more details view paper
  • Downloaded 1,710 times
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    • Site-wide: 12,622
    • In genetics: 543
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Genomic analyses for age at menarche identify 389 independent signals and indicate BMI-independent effects of puberty timing on cancer susceptibility

genomics more details view paper
  • Downloaded 1,322 times
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A tissue-aware machine learning framework enhances the mechanistic understanding and genetic diagnosis of Mendelian and rare diseases

genetics more details view paper
  • Downloaded 487 times
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    • Site-wide: 75,397
    • In genetics: 3,189
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Evaluating Methods for Differential Gene Expression And Alternative Splicing Using Internal Synthetic Controls.

bioinformatics more details view paper
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    • In bioinformatics: 7,666
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Photoreceptor layer thinning is an early biomarker for age-related macular degeneration development: Epidemiological and genetic evidence from UK Biobank optical coherence tomography data

ophthalmology more details view paper
  • Downloaded 225 times
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    • Site-wide: 136,327
    • In ophthalmology: 160
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