Rxivist logo

Author: Konrad J. Karczewski

Rankings

  • All-time downloads: 102,233 (rank: 275 out of 398,135)
  • Categories:
    • genetics: 6,065 (rank: 2,870 out of 36,546)
    • genomics: 96,168 (rank: 34 out of 42,280)

Downloads per author, site-wide

Preprints

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

genomics more details view paper
  • Downloaded 22,342 times
  • Download rankings, all-time:
    • Site-wide: 68 out of 93,322
    • In genomics: 9 out of 5,875
  • Year to date:
    • Site-wide: 144 out of 93,322
  • Since beginning of last month:
    • Site-wide: 474 out of 93,322

Analysis of protein-coding genetic variation in 60,706 humans

genomics more details view paper
  • Downloaded 21,779 times
  • Download rankings, all-time:
    • Site-wide: 71 out of 93,322
    • In genomics: 10 out of 5,875
  • Year to date:
    • Site-wide: 17,719 out of 93,322
  • Since beginning of last month:
    • Site-wide: 19,292 out of 93,322

An open resource of structural variation for medical and population genetics

genomics more details view paper
  • Downloaded 10,371 times
  • Download rankings, all-time:
    • Site-wide: 238 out of 93,322
    • In genomics: 48 out of 5,875
  • Year to date:
    • Site-wide: 597 out of 93,322
  • Since beginning of last month:
    • Site-wide: 2,706 out of 93,322

Regional missense constraint improves variant deleteriousness prediction

genomics more details view paper
  • Downloaded 6,753 times
  • Download rankings, all-time:
    • Site-wide: 473 out of 93,322
    • In genomics: 95 out of 5,875
  • Year to date:
    • Site-wide: 1,329 out of 93,322
  • Since beginning of last month:
    • Site-wide: 1,951 out of 93,322

Improving genetic diagnosis in Mendelian disease with transcriptome sequencing

genomics more details view paper
  • Downloaded 5,328 times
  • Download rankings, all-time:
    • Site-wide: 716 out of 93,322
    • In genomics: 144 out of 5,875
  • Year to date:
    • Site-wide: 21,969 out of 93,322
  • Since beginning of last month:
    • Site-wide: 10,101 out of 93,322

Using high-resolution variant frequencies to empower clinical genome interpretation

genomics more details view paper
  • Downloaded 4,749 times
  • Download rankings, all-time:
    • Site-wide: 874 out of 93,322
    • In genomics: 182 out of 5,875
  • Year to date:
    • Site-wide: 13,972 out of 93,322
  • Since beginning of last month:
    • Site-wide: 15,383 out of 93,322

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

genomics more details view paper
  • Downloaded 4,289 times
  • Download rankings, all-time:
    • Site-wide: 1,046 out of 93,322
    • In genomics: 220 out of 5,875
  • Year to date:
    • Site-wide: 3,158 out of 93,322
  • Since beginning of last month:
    • Site-wide: 4,528 out of 93,322

Transcript expression-aware annotation improves rare variant discovery and interpretation

genomics more details view paper
  • Downloaded 3,480 times
  • Download rankings, all-time:
    • Site-wide: 1,487 out of 93,322
    • In genomics: 310 out of 5,875
  • Year to date:
    • Site-wide: 1,764 out of 93,322
  • Since beginning of last month:
    • Site-wide: 9,502 out of 93,322

Efficient genotype compression and analysis of large genetic variation datasets

genomics more details view paper
  • Downloaded 3,249 times
  • Download rankings, all-time:
    • Site-wide: 1,688 out of 93,322
    • In genomics: 340 out of 5,875
  • Year to date:
    • Site-wide: 47,815 out of 93,322
  • Since beginning of last month:
    • Site-wide: 27,021 out of 93,322

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

genomics more details view paper
  • Downloaded 2,956 times
  • Download rankings, all-time:
    • Site-wide: 2,000 out of 93,322
    • In genomics: 391 out of 5,875
  • Year to date:
    • Site-wide: 4,349 out of 93,322
  • Since beginning of last month:
    • Site-wide: 13,661 out of 93,322

Quantifying the impact of rare and ultra-rare coding variation across the phenotypic spectrum

genetics more details view paper
  • Downloaded 2,152 times
  • Download rankings, all-time:
    • Site-wide: 3,398 out of 93,322
    • In genetics: 254 out of 4,774
  • Year to date:
    • Site-wide: 12,939 out of 93,322
  • Since beginning of last month:
    • Site-wide: 7,542 out of 93,322

Landscape of X chromosome inactivation across human tissues

genomics more details view paper
  • Downloaded 1,952 times
  • Download rankings, all-time:
    • Site-wide: 3,975 out of 93,322
    • In genomics: 694 out of 5,875
  • Year to date:
    • Site-wide: 54,479 out of 93,322
  • Since beginning of last month:
    • Site-wide: 36,502 out of 93,322

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 1,811 times
  • Download rankings, all-time:
    • Site-wide: 4,519 out of 93,322
    • In genomics: 756 out of 5,875
  • Year to date:
    • Site-wide: 8,620 out of 93,322
  • Since beginning of last month:
    • Site-wide: 18,826 out of 93,322

Insights into the genetic epidemiology of Crohn's and rare diseases in the Ashkenazi Jewish population

genetics more details view paper
  • Downloaded 1,492 times
  • Download rankings, all-time:
    • Site-wide: 6,230 out of 93,322
    • In genetics: 455 out of 4,774
  • Year to date:
    • Site-wide: 76,560 out of 93,322
  • Since beginning of last month:
    • Site-wide: 54,270 out of 93,322

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

genomics more details view paper
  • Downloaded 1,469 times
  • Download rankings, all-time:
    • Site-wide: 6,384 out of 93,322
    • In genomics: 1,006 out of 5,875
  • Year to date:
    • Site-wide: 8,428 out of 93,322
  • Since beginning of last month:
    • Site-wide: 29,275 out of 93,322

Refining the role of de novo protein truncating variants in neurodevelopmental disorders using population reference samples

genetics more details view paper
  • Downloaded 1,384 times
  • Download rankings, all-time:
    • Site-wide: 7,032 out of 93,322
    • In genetics: 500 out of 4,774
  • Year to date:
    • Site-wide: 65,649 out of 93,322
  • Since beginning of last month:
    • Site-wide: 69,324 out of 93,322

Determining the impact of putative loss-of-function variants in protein-coding genes

genomics more details view paper
  • Downloaded 1,287 times
  • Download rankings, all-time:
    • Site-wide: 7,950 out of 93,322
    • In genomics: 1,211 out of 5,875
  • Year to date:
    • Site-wide: 28,604 out of 93,322
  • Since beginning of last month:
    • Site-wide: 22,034 out of 93,322

Base-Specific Mutational Intolerance Near Splice-Sites Clarifies Role Of Non-Essential Splice Nucleotides

genomics more details view paper
  • Downloaded 1,105 times
  • Download rankings, all-time:
    • Site-wide: 10,271 out of 93,322
    • In genomics: 1,477 out of 5,875
  • Year to date:
    • Site-wide: 77,057 out of 93,322
  • Since beginning of last month:
    • Site-wide: 62,073 out of 93,322

The ExAC Browser: Displaying reference data information from over 60,000 exomes

genomics more details view paper
  • Downloaded 1,038 times
  • Download rankings, all-time:
    • Site-wide: 11,410 out of 93,322
    • In genomics: 1,593 out of 5,875
  • Year to date:
    • Site-wide: 87,423 out of 93,322
  • Since beginning of last month:
    • Site-wide: 73,294 out of 93,322

Haplotype sharing provides insights into fine-scale population history and disease in Finland

genetics more details view paper
  • Downloaded 1,037 times
  • Download rankings, all-time:
    • Site-wide: 11,416 out of 93,322
    • In genetics: 770 out of 4,774
  • Year to date:
    • Site-wide: 60,537 out of 93,322
  • Since beginning of last month:
    • Site-wide: 42,998 out of 93,322

Tractor: A framework allowing for improved inclusion of admixed individuals in large-scale association studies.

genomics more details view paper
  • Downloaded 825 times
  • Download rankings, all-time:
    • Site-wide: 16,280 out of 93,322
    • In genomics: 2,055 out of 5,875
  • Year to date:
    • Site-wide: 2,380 out of 93,322
  • Since beginning of last month:
    • Site-wide: 2,810 out of 93,322

Technical artifact drives apparent deviation from Hardy-Weinberg equilibrium at CCR5-Δ32 and other variants in gnomAD

genomics more details view paper
  • Downloaded 737 times
  • Download rankings, all-time:
    • Site-wide: 19,356 out of 93,322
    • In genomics: 2,309 out of 5,875
  • Year to date:
    • Site-wide: 31,562 out of 93,322
  • Since beginning of last month:
    • Site-wide: 44,215 out of 93,322

Response to Shah et al: Using high-resolution variant frequencies empowers clinical genome interpretation and enables investigation of genetic architecture

genomics more details view paper
  • Downloaded 648 times
  • Download rankings, all-time:
    • Site-wide: 23,394 out of 93,322
    • In genomics: 2,604 out of 5,875
  • Year to date:
    • Site-wide: 81,332 out of 93,322
  • Since beginning of last month:
    • Site-wide: 80,799 out of 93,322

PanLingua

Sign up for the Rxivist weekly newsletter! (Click here for more details.)


News