Author: Jessica Alföldi

Downloads per author, site-wide

Preprints

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

• 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

An open resource of structural variation for medical and population genetics

• Downloaded 11,374 times
• Download rankings, all-time:
  • Site-wide: 992
  • In genomics: 61
• Year to date:
  • Site-wide: 12,207
• Since beginning of last month:
  • Site-wide: 15,355

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

• Downloaded 5,304 times
• Download rankings, all-time:
  • Site-wide: 2,612
  • In genomics: 225
• Year to date:
  • Site-wide: 50,208
• Since beginning of last month:
  • Site-wide: 61,512

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

• Downloaded 4,074 times
• Download rankings, all-time:
  • Site-wide: 3,747
  • In genomics: 360
• Year to date:
  • Site-wide: 15,999
• Since beginning of last month:
  • Site-wide: 52,033

Transcript expression-aware annotation improves rare variant discovery and interpretation

• 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

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

• Downloaded 3,266 times
• Download rankings, all-time:
  • Site-wide: 5,115
  • In genomics: 491
• Year to date:
  • Site-wide: 78,886
• Since beginning of last month:
  • Site-wide: 101,378

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

• Downloaded 2,103 times
• Download rankings, all-time:
  • Site-wide: 9,662
  • In genomics: 946
• Year to date:
  • Site-wide: 78,164
• Since beginning of last month:
  • Site-wide: 40,721

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

• Downloaded 1,643 times
• Download rankings, all-time:
  • Site-wide: 13,962
  • In genomics: 1,349
• Year to date:
  • Site-wide: 46,800
• Since beginning of last month:
  • Site-wide: 150,363

The meadow jumping mouse genome and transcriptome suggest mechanisms of hibernation

• Downloaded 420 times
• Download rankings, all-time:
  • Site-wide: 91,702
  • In genomics: 5,741
• Year to date:
  • Site-wide: 147,364
• Since beginning of last month:
  • Site-wide: 77,225