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Author: Eleanor G Seaby

  • Most recently observed institution: Translational Genomics Group, Broad Institute of MIT and Harvard, Cambridge, Massachusetts, USA; 10. Genomic Informatics Group, University Hospital Southampton, Southampton, United Kingdom

Rankings

  • All-time downloads: 30,126 (rank: 7,505 )
  • Categories:
    • genetic and genomic medicine: 164 (rank: 14,998 (tie) )
    • genetics: 579 (rank: 27,664 (tie) )
    • genomics: 29,383 (rank: 421 (tie) )

Downloads per author, site-wide

Preprints

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

genomics more details view paper
  • Downloaded 25,376 times
  • Download rankings, all-time:
    • Site-wide: 383
    • In genomics: 11
  • Year to date:
    • Site-wide: 10,581
  • Since beginning of last month:
    • Site-wide: 5,170

Transcript expression-aware annotation improves rare variant discovery and interpretation

genomics more details view paper
  • Downloaded 4,007 times
  • Download rankings, all-time:
    • Site-wide: 3,828
    • In genomics: 370
  • Year to date:
    • Site-wide: 108,124
  • Since beginning of last month:
    • Site-wide: 28,394

Delineation of the First Human Mendelian Disorder of the DNA Demethylation Machinery: TET3 Deficiency

genetics more details view paper
  • Downloaded 579 times
  • Download rankings, all-time:
    • Site-wide: 63,864
    • In genetics: 2,678
  • Year to date:
    • Site-wide: 128,721
  • Since beginning of last month:
    • Site-wide: 144,957

A clustering of missense variants in the crucial chromatin modifier WDR5 defines a new neurodevelopmental disorder

genetic and genomic medicine more details view paper
  • Downloaded 164 times
  • Download rankings, all-time:
    • Site-wide: 155,871
    • In genetic and genomic medicine: 1,020
  • Year to date:
    • Site-wide: 28,199
  • Since beginning of last month:
    • Site-wide: 14,417

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