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Author: Monkol Lek

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

Rankings

  • All-time downloads: 87,592 (rank: 2,554 )
  • Categories:
    • bioinformatics: 2,853 (rank: 6,254 (tie) )
    • epidemiology: 2,208 (rank: 7,279 (tie) )
    • genetic and genomic medicine: 401 (rank: 11,058 (tie) )
    • genetics: 4,716 (rank: 4,500 (tie) )
    • genomics: 75,211 (rank: 137 )
    • molecular biology: 248 (rank: 29,329 (tie) )

Downloads per author, site-wide

Preprints

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

genomics more details view paper
  • Downloaded 25,861 times
  • Download rankings, all-time:
    • Site-wide: 402
    • In genomics: 11
  • Year to date:
    • Site-wide: 4,803
  • Since beginning of last month:
    • Site-wide: 4,858

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

genomics more details view paper
  • Downloaded 22,372 times
  • Download rankings, all-time:
    • Site-wide: 470
    • In genomics: 13
  • Year to date:
    • Site-wide: 32,486
  • Since beginning of last month:
    • Site-wide: 36,612

Scaling accurate genetic variant discovery to tens of thousands of samples

genomics more details view paper
  • Downloaded 11,317 times
  • Download rankings, all-time:
    • Site-wide: 1,096
    • In genomics: 71
  • Year to date:
    • Site-wide: 1,003
  • Since beginning of last month:
    • Site-wide: 927

Improving genetic diagnosis in Mendelian disease with transcriptome sequencing

genomics more details view paper
  • Downloaded 5,757 times
  • Download rankings, all-time:
    • Site-wide: 2,609
    • In genomics: 201
  • Year to date:
    • Site-wide: 76,398
  • Since beginning of last month:
    • Site-wide: 65,861

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

genomics more details view paper
  • Downloaded 4,870 times
  • Download rankings, all-time:
    • Site-wide: 3,269
    • In genomics: 287
  • Year to date:
    • Site-wide: 31,205
  • Since beginning of last month:
    • Site-wide: 32,063

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

genomics more details view paper
  • Downloaded 3,562 times
  • Download rankings, all-time:
    • Site-wide: 5,063
    • In genomics: 455
  • Year to date:
    • Site-wide: 57,955
  • Since beginning of last month:
    • Site-wide: 71,896

STRetch: detecting and discovering pathogenic short tandem repeats expansions

bioinformatics more details view paper
  • Downloaded 2,898 times
  • Download rankings, all-time:
    • Site-wide: 6,843
    • In bioinformatics: 621
  • Year to date:
    • Site-wide: 66,469
  • Since beginning of last month:
    • Site-wide: 65,893

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

epidemiology more details view paper
  • Downloaded 2,294 times
  • Download rankings, all-time:
    • Site-wide: 9,644
    • In epidemiology: 772
  • Year to date:
    • Site-wide: 42,090
  • Since beginning of last month:
    • Site-wide: 44,980

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

genetics more details view paper
  • Downloaded 1,819 times
  • Download rankings, all-time:
    • Site-wide: 13,600
    • In genetics: 514
  • Year to date:
    • Site-wide: 126,322
  • Since beginning of last month:
    • Site-wide: 91,098

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

genetics more details view paper
  • Downloaded 1,563 times
  • Download rankings, all-time:
    • Site-wide: 17,156
    • In genetics: 680
  • Year to date:
    • Site-wide: 164,726
  • Since beginning of last month:
    • Site-wide: 170,132

The Genetic Landscape of Diamond-Blackfan Anemia

genetics more details view paper
  • Downloaded 1,221 times
  • Download rankings, all-time:
    • Site-wide: 25,129
    • In genetics: 993
  • Year to date:
    • Site-wide: 121,351
  • Since beginning of last month:
    • Site-wide: 115,005

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

genomics more details view paper
  • Downloaded 1,137 times
  • Download rankings, all-time:
    • Site-wide: 28,060
    • In genomics: 2,314
  • Year to date:
    • Site-wide: 149,259
  • Since beginning of last month:
    • Site-wide: 147,466

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

genomics more details view paper
  • Downloaded 1,124 times
  • Download rankings, all-time:
    • Site-wide: 28,521
    • In genomics: 2,324
  • Year to date:
    • Site-wide: 180,509
  • Since beginning of last month:
    • Site-wide: 164,764

Insights into dispersed duplications and complex structural mutations from whole genome sequencing 706 families

genomics more details view paper
  • Downloaded 716 times
  • Download rankings, all-time:
    • Site-wide: 55,378
    • In genomics: 4,226
  • Year to date:
    • Site-wide: 46,860
  • Since beginning of last month:
    • Site-wide: 35,913

Centers for Mendelian Genomics: A decade of facilitating gene discovery

genetic and genomic medicine more details view paper
  • Downloaded 578 times
  • Download rankings, all-time:
    • Site-wide: 73,590
    • In genetic and genomic medicine: 571
  • Year to date:
    • Site-wide: 12,045
  • Since beginning of last month:
    • Site-wide: 18,260

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

molecular biology more details view paper
  • Downloaded 262 times
  • Download rankings, all-time:
    • Site-wide: 149,396
    • In molecular biology: 4,162
  • Year to date:
    • Site-wide: 168,342
  • Since beginning of last month:
    • Site-wide: 125,844

MitoVisualize: A resource for analysis of variants in human mitochondrial RNAs and DNA

genetics more details view paper
  • Downloaded 241 times
  • Download rankings, all-time:
    • Site-wide: 155,643
    • In genetics: 6,082
  • Year to date:
    • Site-wide: 43,090
  • Since beginning of last month:
    • Site-wide: 29,911

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