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Author: Monkol Lek

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

Rankings

  • All-time downloads: 75,406 (rank: 547 out of 428,488)
  • Categories:
    • bioinformatics: 2,551 (rank: 4,489 (tie) out of 36,286)
    • epidemiology: 1,549 (rank: 812 (tie) out of 9,545)
    • genetics: 4,161 (rank: 3,922 out of 38,071)
    • genomics: 67,011 (rank: 107 out of 44,721)
    • molecular biology: 134 (rank: 20,763 (tie) out of 23,546)

Downloads per author, site-wide

Preprints

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

genomics more details view paper
  • Downloaded 23,222 times
  • Download rankings, all-time:
    • Site-wide: 71 out of 101,433
    • In genomics: 9 out of 6,283
  • Year to date:
    • Site-wide: 152 out of 101,433
  • Since beginning of last month:
    • Site-wide: 381 out of 101,433

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

genomics more details view paper
  • Downloaded 21,837 times
  • Download rankings, all-time:
    • Site-wide: 77 out of 101,433
    • In genomics: 10 out of 6,283
  • Year to date:
    • Site-wide: 18,886 out of 101,433
  • Since beginning of last month:
    • Site-wide: 25,027 out of 101,433

Scaling accurate genetic variant discovery to tens of thousands of samples

genomics more details view paper
  • Downloaded 6,687 times
  • Download rankings, all-time:
    • Site-wide: 541 out of 101,433
    • In genomics: 110 out of 6,283
  • Year to date:
    • Site-wide: 813 out of 101,433
  • Since beginning of last month:
    • Site-wide: 938 out of 101,433

Improving genetic diagnosis in Mendelian disease with transcriptome sequencing

genomics more details view paper
  • Downloaded 5,410 times
  • Download rankings, all-time:
    • Site-wide: 765 out of 101,433
    • In genomics: 150 out of 6,283
  • Year to date:
    • Site-wide: 19,575 out of 101,433
  • Since beginning of last month:
    • Site-wide: 17,028 out of 101,433

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

genomics more details view paper
  • Downloaded 4,309 times
  • Download rankings, all-time:
    • Site-wide: 1,160 out of 101,433
    • In genomics: 235 out of 6,283
  • Year to date:
    • Site-wide: 23,344 out of 101,433
  • Since beginning of last month:
    • Site-wide: 22,359 out of 101,433

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

genomics more details view paper
  • Downloaded 3,168 times
  • Download rankings, all-time:
    • Site-wide: 1,976 out of 101,433
    • In genomics: 379 out of 6,283
  • Year to date:
    • Site-wide: 16,332 out of 101,433
  • Since beginning of last month:
    • Site-wide: 29,133 out of 101,433

STRetch: detecting and discovering pathogenic short tandem repeats expansions

bioinformatics more details view paper
  • Downloaded 2,551 times
  • Download rankings, all-time:
    • Site-wide: 2,803 out of 101,433
    • In bioinformatics: 481 out of 9,300
  • Year to date:
    • Site-wide: 24,233 out of 101,433
  • Since beginning of last month:
    • Site-wide: 25,168 out of 101,433

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

genetics more details view paper
  • Downloaded 1,671 times
  • Download rankings, all-time:
    • Site-wide: 5,681 out of 101,433
    • In genetics: 398 out of 5,040
  • Year to date:
    • Site-wide: 77,223 out of 101,433
  • Since beginning of last month:
    • Site-wide: 73,304 out of 101,433

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

epidemiology more details view paper
  • Downloaded 1,549 times
  • Download rankings, all-time:
    • Site-wide: 6,481 out of 101,433
    • In epidemiology: 51 out of 1,556
  • Year to date:
    • Site-wide: 6,623 out of 101,433
  • Since beginning of last month:
    • Site-wide: 8,066 out of 101,433

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

genetics more details view paper
  • Downloaded 1,401 times
  • Download rankings, all-time:
    • Site-wide: 7,681 out of 101,433
    • In genetics: 526 out of 5,040
  • Year to date:
    • Site-wide: 72,457 out of 101,433
  • Since beginning of last month:
    • Site-wide: 80,958 out of 101,433

The Genetic Landscape of Diamond-Blackfan Anemia

genetics more details view paper
  • Downloaded 1,089 times
  • Download rankings, all-time:
    • Site-wide: 11,709 out of 101,433
    • In genetics: 775 out of 5,040
  • Year to date:
    • Site-wide: 51,753 out of 101,433
  • Since beginning of last month:
    • Site-wide: 48,689 out of 101,433

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

genomics more details view paper
  • Downloaded 1,046 times
  • Download rankings, all-time:
    • Site-wide: 12,511 out of 101,433
    • In genomics: 1,690 out of 6,283
  • Year to date:
    • Site-wide: 96,643 out of 101,433
  • Since beginning of last month:
    • Site-wide: 91,627 out of 101,433

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

genomics more details view paper
  • Downloaded 939 times
  • Download rankings, all-time:
    • Site-wide: 14,880 out of 101,433
    • In genomics: 1,930 out of 6,283
  • Year to date:
    • Site-wide: 31,152 out of 101,433
  • Since beginning of last month:
    • Site-wide: 37,384 out of 101,433

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

genomics more details view paper
  • Downloaded 393 times
  • Download rankings, all-time:
    • Site-wide: 48,053 out of 101,433
    • In genomics: 4,164 out of 6,283
  • Year to date:
    • Site-wide: 11,134 out of 101,433
  • Since beginning of last month:
    • Site-wide: 9,411 out of 101,433

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

molecular biology more details view paper
  • Downloaded 134 times
  • Download rankings, all-time:
    • Site-wide: 89,610 out of 101,433
    • In molecular biology: 3,036 out of 3,519
  • Year to date:
    • Site-wide: 47,646 out of 101,433
  • Since beginning of last month:
    • Site-wide: 72,497 out of 101,433

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