Author: Ryan L. Collins

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Preprints

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

• Downloaded 24,152 times
• Download rankings, all-time:
  • Site-wide: 264
  • In genomics: 10
• Year to date:
  • Site-wide: 1,962
• Since beginning of last month:
  • Site-wide: 2,124

An open resource of structural variation for medical and population genetics

• Downloaded 10,921 times
• Download rankings, all-time:
  • Site-wide: 664
  • In genomics: 50
• Year to date:
  • Site-wide: 6,009
• Since beginning of last month:
  • Site-wide: 5,415

Multi-platform discovery of haplotype-resolved structural variation in human genomes

• Downloaded 8,336 times
• Download rankings, all-time:
  • Site-wide: 947
  • In genomics: 84
• Year to date:
  • Site-wide: 45,196
• Since beginning of last month:
  • Site-wide: None

CNView: a visualization and annotation tool for copy number variation from whole-genome sequencing

• Downloaded 2,603 times
• Download rankings, all-time:
  • Site-wide: 4,740
  • In bioinformatics: 526
• Year to date:
  • Site-wide: 19,127
• Since beginning of last month:
  • Site-wide: 16,072

Limited contribution of rare, noncoding variation to autism spectrum disorder from sequencing of 2,076 genomes in quartet families

• Downloaded 2,531 times
• Download rankings, all-time:
  • Site-wide: 4,928
  • In genomics: 573
• Year to date:
  • Site-wide: 49,808
• Since beginning of last month:
  • Site-wide: 54,995

Genome-wide maps of enhancer regulation connect risk variants to disease genes

• Downloaded 2,363 times
• Download rankings, all-time:
  • Site-wide: 5,484
  • In genetics: 262
• Year to date:
  • Site-wide: 2,304
• Since beginning of last month:
  • Site-wide: 2,307

Indexcov: fast coverage quality control for whole-genome sequencing

• Downloaded 1,782 times
• Download rankings, all-time:
  • Site-wide: 8,277
  • In genomics: 932
• Year to date:
  • Site-wide: 29,756
• Since beginning of last month:
  • Site-wide: 36,604

A cross-disorder dosage sensitivity map of the human genome

• Downloaded 1,537 times
• Download rankings, all-time:
  • Site-wide: 10,353
  • In genetic and genomic medicine: 33
• Year to date:
  • Site-wide: 331
• Since beginning of last month:
  • Site-wide: 171

Dissecting the Causal Mechanism of X-Linked Dystonia-Parkinsonism by Integrating Genome and Transcriptome Assembly

• Downloaded 1,219 times
• Download rankings, all-time:
  • Site-wide: 14,630
  • In genomics: 1,545
• Year to date:
  • Site-wide: 76,603
• Since beginning of last month:
  • Site-wide: 60,971

Functional annotation of rare structural variation in the human brain

• Downloaded 1,190 times
• Download rankings, all-time:
  • Site-wide: 15,156
  • In genomics: 1,594
• Year to date:
  • Site-wide: 46,932
• Since beginning of last month:
  • Site-wide: 45,359

Expectations and blind spots for structural variation detection from short-read alignment and long-read assembly

• Downloaded 727 times
• Download rankings, all-time:
  • Site-wide: 30,890
  • In genomics: 2,800
• Year to date:
  • Site-wide: 13,623
• Since beginning of last month:
  • Site-wide: 14,684

Systematic evaluation of genome sequencing as a first-tier diagnostic test for prenatal and pediatric disorders

• Downloaded 665 times
• Download rankings, all-time:
  • Site-wide: 34,829
  • In genomics: 3,061
• Year to date:
  • Site-wide: 26,942
• Since beginning of last month:
  • Site-wide: 35,200