Author: Monkol Lek

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Preprints

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

• 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

• 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

• 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

• 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

• 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

• 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

• 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

• 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

• 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

• 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

• 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.

• 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

• 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

• 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

• 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

• 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

• 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

• 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

• 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