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Author: Jessica Alföldi

Rankings

  • All-time downloads: 48,397 (rank: 732 out of 380,089)
  • Categories:
    • genomics: 48,397 (rank: 127 out of 40,563)

Downloads per author, site-wide

Preprints

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

genomics more details view paper
  • Downloaded 21,803 times
  • Download rankings, all-time:
    • Site-wide: 64 out of 88,646
    • In genomics: 8 out of 5,656
  • Year to date:
    • Site-wide: 138 out of 88,646
  • Since beginning of last month:
    • Site-wide: 317 out of 88,646

An open resource of structural variation for medical and population genetics

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  • Downloaded 10,196 times
  • Download rankings, all-time:
    • Site-wide: 232 out of 88,646
    • In genomics: 47 out of 5,656
  • Year to date:
    • Site-wide: 534 out of 88,646
  • Since beginning of last month:
    • Site-wide: 1,880 out of 88,646

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

genomics more details view paper
  • Downloaded 4,191 times
  • Download rankings, all-time:
    • Site-wide: 1,022 out of 88,646
    • In genomics: 223 out of 5,656
  • Year to date:
    • Site-wide: 3,064 out of 88,646
  • Since beginning of last month:
    • Site-wide: 6,112 out of 88,646

Transcript expression-aware annotation improves rare variant discovery and interpretation

genomics more details view paper
  • Downloaded 3,419 times
  • Download rankings, all-time:
    • Site-wide: 1,451 out of 88,646
    • In genomics: 306 out of 5,656
  • Year to date:
    • Site-wide: 1,468 out of 88,646
  • Since beginning of last month:
    • Site-wide: 2,359 out of 88,646

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

genomics more details view paper
  • Downloaded 2,911 times
  • Download rankings, all-time:
    • Site-wide: 1,935 out of 88,646
    • In genomics: 382 out of 5,656
  • Year to date:
    • Site-wide: 3,781 out of 88,646
  • Since beginning of last month:
    • Site-wide: 7,857 out of 88,646

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

genomics more details view paper
  • Downloaded 2,645 times
  • Download rankings, all-time:
    • Site-wide: 2,266 out of 88,646
    • In genomics: 438 out of 5,656
  • Year to date:
    • Site-wide: 1,127 out of 88,646
  • Since beginning of last month:
    • Site-wide: 1,564 out of 88,646

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 1,781 times
  • Download rankings, all-time:
    • Site-wide: 4,391 out of 88,646
    • In genomics: 745 out of 5,656
  • Year to date:
    • Site-wide: 7,515 out of 88,646
  • Since beginning of last month:
    • Site-wide: 8,503 out of 88,646

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

genomics more details view paper
  • Downloaded 1,451 times
  • Download rankings, all-time:
    • Site-wide: 6,134 out of 88,646
    • In genomics: 993 out of 5,656
  • Year to date:
    • Site-wide: 6,909 out of 88,646
  • Since beginning of last month:
    • Site-wide: 14,227 out of 88,646

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