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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 73,896 bioRxiv papers from 321,557 authors.

Author: Monkol Lek

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

Rankings

  • All-time downloads: 65,036 (rank: 242 out of 321,602)
  • Categories:
    • bioinformatics: 2,354 (rank: 3,616 (tie) out of 27,847)
    • epidemiology: 1,098 (rank: 1,012 (tie) out of 9,542)
    • genetics: 3,929 (rank: 3,576 out of 31,598)
    • genomics: 57,655 (rank: 105 out of 35,811)

Downloads per author, site-wide

Preprints

Cystin gene mutations cause autosomal recessive polycystic kidney disease associated with altered Myc expression

molecular biology more details view paper

No bioRxiv download data for this paper yet.

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

genomics more details view paper
  • Downloaded 21,596 times
  • Download rankings, all-time:
    • Site-wide: 35 out of 73,896
    • In genomics: 7 out of 4,893
  • Year to date:
    • Site-wide: 21,605 out of 73,896
  • Since beginning of last month:
    • Site-wide: 21,605 out of 73,896

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 17,206 times
  • Download rankings, all-time:
    • Site-wide: 45 out of 73,896
    • In genomics: 10 out of 4,893
  • Year to date:
    • Site-wide: 68 out of 73,896
  • Since beginning of last month:
    • Site-wide: 68 out of 73,896

Improving genetic diagnosis in Mendelian disease with transcriptome sequencing

genomics more details view paper
  • Downloaded 5,186 times
  • Download rankings, all-time:
    • Site-wide: 471 out of 73,896
    • In genomics: 116 out of 4,893
  • Year to date:
    • Site-wide: 16,115 out of 73,896
  • Since beginning of last month:
    • Site-wide: 16,115 out of 73,896

Scaling accurate genetic variant discovery to tens of thousands of samples

genomics more details view paper
  • Downloaded 4,861 times
  • Download rankings, all-time:
    • Site-wide: 534 out of 73,896
    • In genomics: 130 out of 4,893
  • Year to date:
    • Site-wide: 844 out of 73,896
  • Since beginning of last month:
    • Site-wide: 844 out of 73,896

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

genomics more details view paper
  • Downloaded 4,107 times
  • Download rankings, all-time:
    • Site-wide: 737 out of 73,896
    • In genomics: 180 out of 4,893
  • Year to date:
    • Site-wide: 20,942 out of 73,896
  • Since beginning of last month:
    • Site-wide: 20,942 out of 73,896

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

genomics more details view paper
  • Downloaded 2,908 times
  • Download rankings, all-time:
    • Site-wide: 1,410 out of 73,896
    • In genomics: 317 out of 4,893
  • Year to date:
    • Site-wide: 16,102 out of 73,896
  • Since beginning of last month:
    • Site-wide: 16,102 out of 73,896

STRetch: detecting and discovering pathogenic short tandem repeats expansions

bioinformatics more details view paper
  • Downloaded 2,354 times
  • Download rankings, all-time:
    • Site-wide: 2,067 out of 73,896
    • In bioinformatics: 413 out of 7,186
  • Year to date:
    • Site-wide: 22,625 out of 73,896
  • Since beginning of last month:
    • Site-wide: 22,625 out of 73,896

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

genetics more details view paper
  • Downloaded 1,606 times
  • Download rankings, all-time:
    • Site-wide: 3,980 out of 73,896
    • In genetics: 328 out of 4,052
  • Year to date:
    • Site-wide: 57,114 out of 73,896
  • Since beginning of last month:
    • Site-wide: 57,114 out of 73,896

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

genetics more details view paper
  • Downloaded 1,330 times
  • Download rankings, all-time:
    • Site-wide: 5,452 out of 73,896
    • In genetics: 427 out of 4,052
  • Year to date:
    • Site-wide: 54,012 out of 73,896
  • Since beginning of last month:
    • Site-wide: 54,012 out of 73,896

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

epidemiology more details view paper
  • Downloaded 1,098 times
  • Download rankings, all-time:
    • Site-wide: 7,517 out of 73,896
    • In epidemiology: 73 out of 1,556
  • Year to date:
    • Site-wide: 6,323 out of 73,896
  • Since beginning of last month:
    • Site-wide: 6,323 out of 73,896

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

genomics more details view paper
  • Downloaded 1,006 times
  • Download rankings, all-time:
    • Site-wide: 8,671 out of 73,896
    • In genomics: 1,344 out of 4,893
  • Year to date:
    • Site-wide: 65,127 out of 73,896
  • Since beginning of last month:
    • Site-wide: 65,127 out of 73,896

The Genetic Landscape of Diamond-Blackfan Anemia

genetics more details view paper
  • Downloaded 993 times
  • Download rankings, all-time:
    • Site-wide: 8,871 out of 73,896
    • In genetics: 660 out of 4,052
  • Year to date:
    • Site-wide: 27,942 out of 73,896
  • Since beginning of last month:
    • Site-wide: 27,942 out of 73,896

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

genomics more details view paper
  • Downloaded 785 times
  • Download rankings, all-time:
    • Site-wide: 12,806 out of 73,896
    • In genomics: 1,753 out of 4,893
  • Year to date:
    • Site-wide: 19,541 out of 73,896
  • Since beginning of last month:
    • Site-wide: 19,541 out of 73,896

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