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Author: Monkol Lek

  • Most recently observed institution: Yale School of Medicine

Rankings

  • All-time downloads: 81,448 (rank: 1,897 )
  • Categories:
    • bioinformatics: 2,731 (rank: 5,604 (tie) )
    • epidemiology: 2,063 (rank: 6,265 (tie) )
    • genetic and genomic medicine: 45 (rank: 12,768 (tie) )
    • genetics: 4,359 (rank: 4,293 )
    • genomics: 72,059 (rank: 124 )
    • molecular biology: 191 (rank: 25,705 (tie) )

Downloads per author, site-wide

Preprints

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

genomics more details view paper
  • Downloaded 24,863 times
  • Download rankings, all-time:
    • Site-wide: 304
    • In genomics: 11
  • Year to date:
    • Site-wide: 2,808
  • Since beginning of last month:
    • Site-wide: 18,087

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

genomics more details view paper
  • Downloaded 22,118 times
  • Download rankings, all-time:
    • Site-wide: 349
    • In genomics: 13
  • Year to date:
    • Site-wide: 28,675
  • Since beginning of last month:
    • Site-wide: 62,602

Scaling accurate genetic variant discovery to tens of thousands of samples

genomics more details view paper
  • Downloaded 8,807 times
  • Download rankings, all-time:
    • Site-wide: 1,106
    • In genomics: 84
  • Year to date:
    • Site-wide: 1,554
  • Since beginning of last month:
    • Site-wide: 2,933

Improving genetic diagnosis in Mendelian disease with transcriptome sequencing

genomics more details view paper
  • Downloaded 5,622 times
  • Download rankings, all-time:
    • Site-wide: 1,996
    • In genomics: 175
  • Year to date:
    • Site-wide: 37,908
  • Since beginning of last month:
    • Site-wide: 72,441

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

genomics more details view paper
  • Downloaded 4,592 times
  • Download rankings, all-time:
    • Site-wide: 2,652
    • In genomics: 264
  • Year to date:
    • Site-wide: 26,525
  • Since beginning of last month:
    • Site-wide: 43,096

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

genomics more details view paper
  • Downloaded 3,382 times
  • Download rankings, all-time:
    • Site-wide: 4,078
    • In genomics: 422
  • Year to date:
    • Site-wide: 42,706
  • Since beginning of last month:
    • Site-wide: None

STRetch: detecting and discovering pathogenic short tandem repeats expansions

bioinformatics more details view paper
  • Downloaded 2,731 times
  • Download rankings, all-time:
    • Site-wide: 5,525
    • In bioinformatics: 569
  • Year to date:
    • Site-wide: 50,792
  • Since beginning of last month:
    • Site-wide: 71,284

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

epidemiology more details view paper
  • Downloaded 2,063 times
  • Download rankings, all-time:
    • Site-wide: 8,319
    • In epidemiology: 666
  • Year to date:
    • Site-wide: 11,368
  • Since beginning of last month:
    • Site-wide: 82,587

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

genetics more details view paper
  • Downloaded 1,720 times
  • Download rankings, all-time:
    • Site-wide: 10,944
    • In genetics: 484
  • Year to date:
    • Site-wide: 130,500
  • Since beginning of last month:
    • Site-wide: 73,214

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

genetics more details view paper
  • Downloaded 1,489 times
  • Download rankings, all-time:
    • Site-wide: 13,487
    • In genetics: 617
  • Year to date:
    • Site-wide: 105,886
  • Since beginning of last month:
    • Site-wide: None

The Genetic Landscape of Diamond-Blackfan Anemia

genetics more details view paper
  • Downloaded 1,150 times
  • Download rankings, all-time:
    • Site-wide: 19,889
    • In genetics: 921
  • Year to date:
    • Site-wide: 111,986
  • Since beginning of last month:
    • Site-wide: 72,699

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

genomics more details view paper
  • Downloaded 1,089 times
  • Download rankings, all-time:
    • Site-wide: 21,529
    • In genomics: 2,061
  • Year to date:
    • Site-wide: 144,706
  • Since beginning of last month:
    • Site-wide: None

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

genomics more details view paper
  • Downloaded 1,053 times
  • Download rankings, all-time:
    • Site-wide: 22,625
    • In genomics: 2,150
  • Year to date:
    • Site-wide: 75,779
  • Since beginning of last month:
    • Site-wide: 72,204

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

genomics more details view paper
  • Downloaded 533 times
  • Download rankings, all-time:
    • Site-wide: 56,742
    • In genomics: 4,231
  • Year to date:
    • Site-wide: 61,144
  • Since beginning of last month:
    • Site-wide: 28,003

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

molecular biology more details view paper
  • Downloaded 191 times
  • Download rankings, all-time:
    • Site-wide: 124,181
    • In molecular biology: 3,668
  • Year to date:
    • Site-wide: 108,691
  • Since beginning of last month:
    • Site-wide: 95,433

Centers for Mendelian Genomics: A decade of facilitating gene discovery

genetic and genomic medicine more details view paper
  • Downloaded 45 times
  • Download rankings, all-time:
    • Site-wide: 150,546
    • In genetic and genomic medicine: 887
  • Year to date:
    • Site-wide: 113,915
  • Since beginning of last month:
    • Site-wide: 1,144

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