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Rxivist combines preprints from bioRxiv with data from Twitter to help you find the papers being discussed in your field. Currently indexing 62,472 bioRxiv papers from 277,337 authors.

Author: Monkol Lek

  • Most recently observed institution: Department of Genetics, Yale School of Medicine, New Haven

Rankings

  • All-time downloads: 58,699 (rank: 205 out of 277,417)
  • Categories:
    • bioinformatics: 2,282 (rank: 3,128 (tie) out of 24,391)
    • epidemiology: 837 (rank: 1,172 (tie) out of 9,530)
    • genetics: 3,793 (rank: 3,277 (tie) out of 27,685)
    • genomics: 51,787 (rank: 103 out of 31,917)

Downloads per author, site-wide

Preprints

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

genomics more details view paper
  • Downloaded 21,430 times
  • Download rankings, all-time:
    • Site-wide: 24 out of 62,482
    • In genomics: 6 out of 4,297
  • Year to date:
    • Site-wide: 3,393 out of 62,482
  • Since beginning of last month:
    • Site-wide: 4,841 out of 62,482

Variation across 141,456 human exomes and genomes reveals the spectrum of loss-of-function intolerance across human protein-coding genes

genomics more details view paper
  • Downloaded 12,643 times
  • Download rankings, all-time:
    • Site-wide: 69 out of 62,482
    • In genomics: 20 out of 4,297
  • Year to date:
    • Site-wide: 9 out of 62,482
  • Since beginning of last month:
    • Site-wide: 26 out of 62,482

Improving genetic diagnosis in Mendelian disease with transcriptome sequencing

genomics more details view paper
  • Downloaded 5,093 times
  • Download rankings, all-time:
    • Site-wide: 388 out of 62,482
    • In genomics: 102 out of 4,297
  • Year to date:
    • Site-wide: 12,223 out of 62,482
  • Since beginning of last month:
    • Site-wide: 29,459 out of 62,482

Scaling accurate genetic variant discovery to tens of thousands of samples

genomics more details view paper
  • Downloaded 4,140 times
  • Download rankings, all-time:
    • Site-wide: 586 out of 62,482
    • In genomics: 155 out of 4,297
  • Year to date:
    • Site-wide: 823 out of 62,482
  • Since beginning of last month:
    • Site-wide: 1,497 out of 62,482

Health and population effects of rare gene knockouts in adult humans with related parents

genomics more details view paper
  • Downloaded 4,018 times
  • Download rankings, all-time:
    • Site-wide: 624 out of 62,482
    • In genomics: 165 out of 4,297
  • Year to date:
    • Site-wide: 17,264 out of 62,482
  • Since beginning of last month:
    • Site-wide: 16,165 out of 62,482

Resolving the Full Spectrum of Human Genome Variation using Linked-Reads

genomics more details view paper
  • Downloaded 2,787 times
  • Download rankings, all-time:
    • Site-wide: 1,244 out of 62,482
    • In genomics: 289 out of 4,297
  • Year to date:
    • Site-wide: 4,306 out of 62,482
  • Since beginning of last month:
    • Site-wide: 7,205 out of 62,482

STRetch: detecting and discovering pathogenic short tandem repeats expansions

bioinformatics more details view paper
  • Downloaded 2,282 times
  • Download rankings, all-time:
    • Site-wide: 1,758 out of 62,482
    • In bioinformatics: 361 out of 6,231
  • Year to date:
    • Site-wide: 7,747 out of 62,482
  • Since beginning of last month:
    • Site-wide: 15,877 out of 62,482

Quantifying the unobserved protein-coding variants in human populations provides a roadmap for large-scale sequencing projects

genetics more details view paper
  • Downloaded 1,558 times
  • Download rankings, all-time:
    • Site-wide: 3,388 out of 62,482
    • In genetics: 298 out of 3,548
  • Year to date:
    • Site-wide: 32,620 out of 62,482
  • Since beginning of last month:
    • Site-wide: 28,008 out of 62,482

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

genetics more details view paper
  • Downloaded 1,301 times
  • Download rankings, all-time:
    • Site-wide: 4,584 out of 62,482
    • In genetics: 382 out of 3,548
  • Year to date:
    • Site-wide: 38,224 out of 62,482
  • Since beginning of last month:
    • Site-wide: 55,874 out of 62,482

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

genomics more details view paper
  • Downloaded 975 times
  • Download rankings, all-time:
    • Site-wide: 7,336 out of 62,482
    • In genomics: 1,172 out of 4,297
  • Year to date:
    • Site-wide: 47,594 out of 62,482
  • Since beginning of last month:
    • Site-wide: 54,973 out of 62,482

The Genetic Landscape of Diamond-Blackfan Anemia

genetics more details view paper
  • Downloaded 934 times
  • Download rankings, all-time:
    • Site-wide: 7,861 out of 62,482
    • In genetics: 613 out of 3,548
  • Year to date:
    • Site-wide: 18,282 out of 62,482
  • Since beginning of last month:
    • Site-wide: 34,157 out of 62,482

Estimating prevalence for limb-girdle muscular dystrophy based on public sequencing databases

epidemiology more details view paper
  • Downloaded 837 times
  • Download rankings, all-time:
    • Site-wide: 9,367 out of 62,482
    • In epidemiology: 96 out of 1,556
  • Year to date:
    • Site-wide: 2,225 out of 62,482
  • Since beginning of last month:
    • Site-wide: 7,327 out of 62,482

Contribution of non-coding mutations to RPGRIP1-mediated inherited retinal degeneration.

genomics more details view paper
  • Downloaded 701 times
  • Download rankings, all-time:
    • Site-wide: 12,107 out of 62,482
    • In genomics: 1,685 out of 4,297
  • Year to date:
    • Site-wide: 19,000 out of 62,482
  • Since beginning of last month:
    • Site-wide: 27,380 out of 62,482

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