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Author: Jessica Alföldi

Rankings

  • All-time downloads: 59,610 (rank: 4,138 )
  • Categories:
    • genomics: 59,017 (rank: 223 )

Downloads per author, site-wide

Preprints

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

genomics more details view paper
  • Downloaded 26,222 times
  • Download rankings, all-time:
    • Site-wide: 413
    • In genomics: 12
  • Year to date:
    • Site-wide: 4,303
  • Since beginning of last month:
    • Site-wide: 5,916

An open resource of structural variation for medical and population genetics

genomics more details view paper
  • Downloaded 11,676 times
  • Download rankings, all-time:
    • Site-wide: 1,114
    • In genomics: 67
  • Year to date:
    • Site-wide: 22,118
  • Since beginning of last month:
    • Site-wide: 12,808

Evaluating potential drug targets through human loss-of-function genetic variation

genomics more details view paper
  • Downloaded 5,549 times
  • Download rankings, all-time:
    • Site-wide: 2,969
    • In genomics: 249
  • Year to date:
    • Site-wide: 32,585
  • Since beginning of last month:
    • Site-wide: 46,272

Progressive alignment with Cactus: a multiple-genome aligner for the thousand-genome era

genomics more details view paper
  • Downloaded 4,234 times
  • Download rankings, all-time:
    • Site-wide: 4,291
    • In genomics: 388
  • Year to date:
    • Site-wide: 53,715
  • Since beginning of last month:
    • Site-wide: 56,579

Transcript expression-aware annotation improves rare variant discovery and interpretation

genomics more details view paper
  • Downloaded 4,126 times
  • Download rankings, all-time:
    • Site-wide: 4,456
    • In genomics: 399
  • Year to date:
    • Site-wide: 80,428
  • Since beginning of last month:
    • Site-wide: 56,535

Characterising the loss-of-function impact of 5’ untranslated region variants in 15,708 individuals

genomics more details view paper
  • Downloaded 3,370 times
  • Download rankings, all-time:
    • Site-wide: 6,004
    • In genomics: 550
  • Year to date:
    • Site-wide: 89,325
  • Since beginning of last month:
    • Site-wide: 39,012

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

genomics more details view paper
  • Downloaded 2,208 times
  • Download rankings, all-time:
    • Site-wide: 11,213
    • In genomics: 1,009
  • Year to date:
    • Site-wide: 88,508
  • Since beginning of last month:
    • Site-wide: 70,124

Landscape of multi-nucleotide variants in 125,748 human exomes and 15,708 genomes

genomics more details view paper
  • Downloaded 1,710 times
  • Download rankings, all-time:
    • Site-wide: 16,515
    • In genomics: 1,474
  • Year to date:
    • Site-wide: 123,609
  • Since beginning of last month:
    • Site-wide: 80,725

The meadow jumping mouse genome and transcriptome suggest mechanisms of hibernation

genomics more details view paper
  • Downloaded 515 times
  • Download rankings, all-time:
    • Site-wide: 96,843
    • In genomics: 5,847
  • Year to date:
    • Site-wide: 99,230
  • Since beginning of last month:
    • Site-wide: 108,796

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