Author: Jessica Alföldi

Downloads per author, site-wide

Preprints

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

• 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

• 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

• 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

• 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

• 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

• 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

• 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

• 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

• 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