Author: Monkol Lek

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Preprints

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

• Downloaded 25,861 times
• Download rankings, all-time:
  • Site-wide: 402
  • In genomics: 11
• Year to date:
  • Site-wide: 4,803
• Since beginning of last month:
  • Site-wide: 4,858

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

• Downloaded 22,372 times
• Download rankings, all-time:
  • Site-wide: 470
  • In genomics: 13
• Year to date:
  • Site-wide: 32,486
• Since beginning of last month:
  • Site-wide: 36,612

Scaling accurate genetic variant discovery to tens of thousands of samples

• Downloaded 11,317 times
• Download rankings, all-time:
  • Site-wide: 1,096
  • In genomics: 71
• Year to date:
  • Site-wide: 1,003
• Since beginning of last month:
  • Site-wide: 927

Improving genetic diagnosis in Mendelian disease with transcriptome sequencing

• Downloaded 5,757 times
• Download rankings, all-time:
  • Site-wide: 2,609
  • In genomics: 201
• Year to date:
  • Site-wide: 76,398
• Since beginning of last month:
  • Site-wide: 65,861

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

• Downloaded 4,870 times
• Download rankings, all-time:
  • Site-wide: 3,269
  • In genomics: 287
• Year to date:
  • Site-wide: 31,205
• Since beginning of last month:
  • Site-wide: 32,063

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

• Downloaded 3,562 times
• Download rankings, all-time:
  • Site-wide: 5,063
  • In genomics: 455
• Year to date:
  • Site-wide: 57,955
• Since beginning of last month:
  • Site-wide: 71,896

STRetch: detecting and discovering pathogenic short tandem repeats expansions

• Downloaded 2,898 times
• Download rankings, all-time:
  • Site-wide: 6,843
  • In bioinformatics: 621
• Year to date:
  • Site-wide: 66,469
• Since beginning of last month:
  • Site-wide: 65,893

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

• Downloaded 2,294 times
• Download rankings, all-time:
  • Site-wide: 9,644
  • In epidemiology: 772
• Year to date:
  • Site-wide: 42,090
• Since beginning of last month:
  • Site-wide: 44,980

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

• Downloaded 1,819 times
• Download rankings, all-time:
  • Site-wide: 13,600
  • In genetics: 514
• Year to date:
  • Site-wide: 126,322
• Since beginning of last month:
  • Site-wide: 91,098

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

• Downloaded 1,563 times
• Download rankings, all-time:
  • Site-wide: 17,156
  • In genetics: 680
• Year to date:
  • Site-wide: 164,726
• Since beginning of last month:
  • Site-wide: 170,132

The Genetic Landscape of Diamond-Blackfan Anemia

• Downloaded 1,221 times
• Download rankings, all-time:
  • Site-wide: 25,129
  • In genetics: 993
• Year to date:
  • Site-wide: 121,351
• Since beginning of last month:
  • Site-wide: 115,005

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

• Downloaded 1,137 times
• Download rankings, all-time:
  • Site-wide: 28,060
  • In genomics: 2,314
• Year to date:
  • Site-wide: 149,259
• Since beginning of last month:
  • Site-wide: 147,466

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

• Downloaded 1,124 times
• Download rankings, all-time:
  • Site-wide: 28,521
  • In genomics: 2,324
• Year to date:
  • Site-wide: 180,509
• Since beginning of last month:
  • Site-wide: 164,764

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

• Downloaded 716 times
• Download rankings, all-time:
  • Site-wide: 55,378
  • In genomics: 4,226
• Year to date:
  • Site-wide: 46,860
• Since beginning of last month:
  • Site-wide: 35,913

Centers for Mendelian Genomics: A decade of facilitating gene discovery

• Downloaded 578 times
• Download rankings, all-time:
  • Site-wide: 73,590
  • In genetic and genomic medicine: 571
• Year to date:
  • Site-wide: 12,045
• Since beginning of last month:
  • Site-wide: 18,260

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

• Downloaded 262 times
• Download rankings, all-time:
  • Site-wide: 149,396
  • In molecular biology: 4,162
• Year to date:
  • Site-wide: 168,342
• Since beginning of last month:
  • Site-wide: 125,844

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

• Downloaded 241 times
• Download rankings, all-time:
  • Site-wide: 155,643
  • In genetics: 6,082
• Year to date:
  • Site-wide: 43,090
• Since beginning of last month:
  • Site-wide: 29,911