Author: Monkol Lek

Downloads per author, site-wide

Preprints

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

• 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

• 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

• 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

• 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

• 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

• 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

• 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

• 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

• 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

• 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

• 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

• 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.

• 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

• 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

• 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

• 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