Author: Jessica Alföldi

Downloads per author, site-wide

Preprints

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

• Downloaded 18,304 times
• Download rankings, all-time:
  • Site-wide: 57 out of 78,097
  • In genomics: 10 out of 5,108
• Year to date:
  • Site-wide: 109 out of 78,097
• Since beginning of last month:
  • Site-wide: 180 out of 78,097

An open resource of structural variation for medical and population genetics

• Downloaded 9,382 times
• Download rankings, all-time:
  • Site-wide: 197 out of 78,097
  • In genomics: 49 out of 5,108
• Year to date:
  • Site-wide: 310 out of 78,097
• Since beginning of last month:
  • Site-wide: 447 out of 78,097

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

• Downloaded 3,894 times
• Download rankings, all-time:
  • Site-wide: 917 out of 78,097
  • In genomics: 214 out of 5,108
• Year to date:
  • Site-wide: 2,918 out of 78,097
• Since beginning of last month:
  • Site-wide: 5,184 out of 78,097

Transcript expression-aware annotation improves rare variant discovery and interpretation

• Downloaded 2,991 times
• Download rankings, all-time:
  • Site-wide: 1,461 out of 78,097
  • In genomics: 316 out of 5,108
• Year to date:
  • Site-wide: 1,046 out of 78,097
• Since beginning of last month:
  • Site-wide: 490 out of 78,097

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

• Downloaded 2,637 times
• Download rankings, all-time:
  • Site-wide: 1,833 out of 78,097
  • In genomics: 380 out of 5,108
• Year to date:
  • Site-wide: 4,121 out of 78,097
• Since beginning of last month:
  • Site-wide: 5,131 out of 78,097

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

• Downloaded 2,137 times
• Download rankings, all-time:
  • Site-wide: 2,658 out of 78,097
  • In genomics: 529 out of 5,108
• Year to date:
  • Site-wide: 775 out of 78,097
• Since beginning of last month:
  • Site-wide: 1,145 out of 78,097

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

• Downloaded 1,626 times
• Download rankings, all-time:
  • Site-wide: 4,234 out of 78,097
  • In genomics: 741 out of 5,108
• Year to date:
  • Site-wide: 6,812 out of 78,097
• Since beginning of last month:
  • Site-wide: 6,739 out of 78,097

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

• Downloaded 1,303 times
• Download rankings, all-time:
  • Site-wide: 6,112 out of 78,097
  • In genomics: 1,004 out of 5,108
• Year to date:
  • Site-wide: 5,423 out of 78,097
• Since beginning of last month:
  • Site-wide: 4,910 out of 78,097