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Author: Monkol Lek

  • Most recently observed institution: Yale School of Medicine

Rankings

  • All-time downloads: 90,064 (rank: 2,540 )
  • Categories:
    • bioinformatics: 2,916 (rank: 6,863 (tie) )
    • epidemiology: 2,324 (rank: 8,103 (tie) )
    • genetic and genomic medicine: 618 (rank: 10,040 (tie) )
    • genetics: 4,928 (rank: 4,854 (tie) )
    • genomics: 77,305 (rank: 150 )
    • molecular biology: 266 (rank: 32,167 (tie) )

Downloads per author, site-wide

Preprints

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

genomics more details view paper
  • Downloaded 26,264 times
  • Download rankings, all-time:
    • Site-wide: 411
    • In genomics: 12
  • Year to date:
    • Site-wide: 3,999
  • Since beginning of last month:
    • Site-wide: 3,413

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

genomics more details view paper
  • Downloaded 22,453 times
  • Download rankings, all-time:
    • Site-wide: 497
    • In genomics: 16
  • Year to date:
    • Site-wide: 40,153
  • Since beginning of last month:
    • Site-wide: 64,339

Scaling accurate genetic variant discovery to tens of thousands of samples

genomics more details view paper
  • Downloaded 12,249 times
  • Download rankings, all-time:
    • Site-wide: 1,050
    • In genomics: 65
  • Year to date:
    • Site-wide: 912
  • Since beginning of last month:
    • Site-wide: 1,440

Improving genetic diagnosis in Mendelian disease with transcriptome sequencing

genomics more details view paper
  • Downloaded 5,800 times
  • Download rankings, all-time:
    • Site-wide: 2,786
    • In genomics: 218
  • Year to date:
    • Site-wide: 93,312
  • Since beginning of last month:
    • Site-wide: 65,476

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

genomics more details view paper
  • Downloaded 4,969 times
  • Download rankings, all-time:
    • Site-wide: 3,443
    • In genomics: 301
  • Year to date:
    • Site-wide: 35,140
  • Since beginning of last month:
    • Site-wide: 43,724

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

genomics more details view paper
  • Downloaded 3,637 times
  • Download rankings, all-time:
    • Site-wide: 5,352
    • In genomics: 481
  • Year to date:
    • Site-wide: 62,850
  • Since beginning of last month:
    • Site-wide: 52,890

STRetch: detecting and discovering pathogenic short tandem repeats expansions

bioinformatics more details view paper
  • Downloaded 2,972 times
  • Download rankings, all-time:
    • Site-wide: 7,197
    • In bioinformatics: 670
  • Year to date:
    • Site-wide: 68,201
  • Since beginning of last month:
    • Site-wide: 35,278

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

epidemiology more details view paper
  • Downloaded 2,405 times
  • Download rankings, all-time:
    • Site-wide: 9,848
    • In epidemiology: 795
  • Year to date:
    • Site-wide: 39,401
  • Since beginning of last month:
    • Site-wide: 16,063

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

genetics more details view paper
  • Downloaded 1,839 times
  • Download rankings, all-time:
    • Site-wide: 14,801
    • In genetics: 572
  • Year to date:
    • Site-wide: 167,382
  • Since beginning of last month:
    • Site-wide: 183,048

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

genetics more details view paper
  • Downloaded 1,600 times
  • Download rankings, all-time:
    • Site-wide: 18,373
    • In genetics: 731
  • Year to date:
    • Site-wide: 155,127
  • Since beginning of last month:
    • Site-wide: 53,596

The Genetic Landscape of Diamond-Blackfan Anemia

genetics more details view paper
  • Downloaded 1,261 times
  • Download rankings, all-time:
    • Site-wide: 26,847
    • In genetics: 1,057
  • Year to date:
    • Site-wide: 126,556
  • Since beginning of last month:
    • Site-wide: 82,369

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

genomics more details view paper
  • Downloaded 1,175 times
  • Download rankings, all-time:
    • Site-wide: 29,941
    • In genomics: 2,473
  • Year to date:
    • Site-wide: 144,118
  • Since beginning of last month:
    • Site-wide: 109,366

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

genomics more details view paper
  • Downloaded 1,151 times
  • Download rankings, all-time:
    • Site-wide: 30,941
    • In genomics: 2,525
  • Year to date:
    • Site-wide: 187,600
  • Since beginning of last month:
    • Site-wide: 146,831

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

genomics more details view paper
  • Downloaded 788 times
  • Download rankings, all-time:
    • Site-wide: 55,071
    • In genomics: 4,019
  • Year to date:
    • Site-wide: 55,775
  • Since beginning of last month:
    • Site-wide: 61,580

Centers for Mendelian Genomics: A decade of facilitating gene discovery

genetic and genomic medicine more details view paper
  • Downloaded 670 times
  • Download rankings, all-time:
    • Site-wide: 69,578
    • In genetic and genomic medicine: 441
  • Year to date:
    • Site-wide: 17,882
  • Since beginning of last month:
    • Site-wide: 55,736

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

molecular biology more details view paper
  • Downloaded 290 times
  • Download rankings, all-time:
    • Site-wide: 157,562
    • In molecular biology: 4,590
  • Year to date:
    • Site-wide: 177,872
  • Since beginning of last month:
    • Site-wide: 142,529

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

genetics more details view paper
  • Downloaded 271 times
  • Download rankings, all-time:
    • Site-wide: 163,050
    • In genetics: 5,944
  • Year to date:
    • Site-wide: 71,613
  • Since beginning of last month:
    • Site-wide: 165,923

Deleterious heteroplasmic mitochondrial mutations increase risk of overall and cancer-specific mortality

genetic and genomic medicine more details view paper
  • Downloaded 154 times
  • Download rankings, all-time:
    • Site-wide: 191,768
    • In genetic and genomic medicine: None
  • Year to date:
    • Site-wide: 63,116
  • Since beginning of last month:
    • Site-wide: 14,001

Estimating the prevalence of LAMA2 congenital muscular dystrophy using population genetic databases

genetics more details view paper
  • Downloaded 116 times
  • Download rankings, all-time:
    • Site-wide: 198,512
    • In genetics: 6,929
  • Year to date:
    • Site-wide: 82,664
  • Since beginning of last month:
    • Site-wide: 49,263

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