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Author: Monkol Lek

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

Rankings

  • All-time downloads: 77,979 (rank: 1,712 )
  • Categories:
    • bioinformatics: 2,641 (rank: 4,838 (tie) )
    • epidemiology: 1,694 (rank: 5,490 (tie) )
    • genetics: 4,264 (rank: 4,071 (tie) )
    • genomics: 69,226 (rank: 114 )
    • molecular biology: 154 (rank: 22,921 (tie) )

Downloads per author, site-wide

Preprints

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

genomics more details view paper
  • Downloaded 24,074 times
  • Download rankings, all-time:
    • Site-wide: 260
    • In genomics: 10
  • Year to date:
    • Site-wide: 2,317
  • Since beginning of last month:
    • Site-wide: 2,317

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

genomics more details view paper
  • Downloaded 21,936 times
  • Download rankings, all-time:
    • Site-wide: 289
    • In genomics: 11
  • Year to date:
    • Site-wide: 41,708
  • Since beginning of last month:
    • Site-wide: 41,708

Scaling accurate genetic variant discovery to tens of thousands of samples

genomics more details view paper
  • Downloaded 7,514 times
  • Download rankings, all-time:
    • Site-wide: 1,076
    • In genomics: 104
  • Year to date:
    • Site-wide: 1,603
  • Since beginning of last month:
    • Site-wide: 1,603

Improving genetic diagnosis in Mendelian disease with transcriptome sequencing

genomics more details view paper
  • Downloaded 5,501 times
  • Download rankings, all-time:
    • Site-wide: 1,628
    • In genomics: 160
  • Year to date:
    • Site-wide: 24,794
  • Since beginning of last month:
    • Site-wide: 24,794

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

genomics more details view paper
  • Downloaded 4,417 times
  • Download rankings, all-time:
    • Site-wide: 2,199
    • In genomics: 250
  • Year to date:
    • Site-wide: 23,189
  • Since beginning of last month:
    • Site-wide: 23,189

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

genomics more details view paper
  • Downloaded 3,260 times
  • Download rankings, all-time:
    • Site-wide: 3,418
    • In genomics: 393
  • Year to date:
    • Site-wide: 41,580
  • Since beginning of last month:
    • Site-wide: 41,580

STRetch: detecting and discovering pathogenic short tandem repeats expansions

bioinformatics more details view paper
  • Downloaded 2,641 times
  • Download rankings, all-time:
    • Site-wide: 4,606
    • In bioinformatics: 515
  • Year to date:
    • Site-wide: 30,850
  • Since beginning of last month:
    • Site-wide: 30,850

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

genetics more details view paper
  • Downloaded 1,701 times
  • Download rankings, all-time:
    • Site-wide: 8,812
    • In genetics: 437
  • Year to date:
    • Site-wide: 72,365
  • Since beginning of last month:
    • Site-wide: 72,365

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

epidemiology more details view paper
  • Downloaded 1,694 times
  • Download rankings, all-time:
    • Site-wide: 8,874
    • In epidemiology: 650
  • Year to date:
    • Site-wide: 26,383
  • Since beginning of last month:
    • Site-wide: 26,383

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

genetics more details view paper
  • Downloaded 1,451 times
  • Download rankings, all-time:
    • Site-wide: 11,118
    • In genetics: 553
  • Year to date:
    • Site-wide: 77,395
  • Since beginning of last month:
    • Site-wide: 77,395

The Genetic Landscape of Diamond-Blackfan Anemia

genetics more details view paper
  • Downloaded 1,112 times
  • Download rankings, all-time:
    • Site-wide: 16,657
    • In genetics: 847
  • Year to date:
    • Site-wide: 101,994
  • Since beginning of last month:
    • Site-wide: 101,994

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

genomics more details view paper
  • Downloaded 1,075 times
  • Download rankings, all-time:
    • Site-wide: 17,528
    • In genomics: 1,827
  • Year to date:
    • Site-wide: 98,632
  • Since beginning of last month:
    • Site-wide: 98,632

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

genomics more details view paper
  • Downloaded 1,000 times
  • Download rankings, all-time:
    • Site-wide: 19,523
    • In genomics: 1,996
  • Year to date:
    • Site-wide: 39,753
  • Since beginning of last month:
    • Site-wide: 39,753

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

genomics more details view paper
  • Downloaded 449 times
  • Download rankings, all-time:
    • Site-wide: 55,550
    • In genomics: 4,234
  • Year to date:
    • Site-wide: 54,057
  • Since beginning of last month:
    • Site-wide: 54,057

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

molecular biology more details view paper
  • Downloaded 154 times
  • Download rankings, all-time:
    • Site-wide: 110,592
    • In molecular biology: 3,320
  • Year to date:
    • Site-wide: 79,239
  • Since beginning of last month:
    • Site-wide: 79,239

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