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Author: Ryan L Collins

Rankings

  • All-time downloads: 71,047 (rank: 3,295 )
  • Categories:
    • bioinformatics: 2,997 (rank: 6,623 (tie) )
    • genetic and genomic medicine: 4,858 (rank: 1,075 )
    • genetics: 3,462 (rank: 6,993 (tie) )
    • genomics: 56,090 (rank: 243 )
    • neurology: 2,553 (rank: 736 (tie) )

Downloads per author, site-wide

Preprints

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

genomics more details view paper
  • Downloaded 26,052 times
  • Download rankings, all-time:
    • Site-wide: 408
    • In genomics: 12
  • Year to date:
    • Site-wide: 4,900
  • Since beginning of last month:
    • Site-wide: None

An open resource of structural variation for medical and population genetics

genomics more details view paper
  • Downloaded 11,608 times
  • Download rankings, all-time:
    • Site-wide: 1,094
    • In genomics: 67
  • Year to date:
    • Site-wide: 25,676
  • Since beginning of last month:
    • Site-wide: 34,606

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

genomics more details view paper
  • Downloaded 8,595 times
  • Download rankings, all-time:
    • Site-wide: 1,600
    • In genomics: 111
  • Year to date:
    • Site-wide: 78,730
  • Since beginning of last month:
    • Site-wide: 53,867

A cross-disorder dosage sensitivity map of the human genome

genetic and genomic medicine more details view paper
  • Downloaded 3,738 times
  • Download rankings, all-time:
    • Site-wide: 4,992
    • In genetic and genomic medicine: 26
  • Year to date:
    • Site-wide: 2,661
  • Since beginning of last month:
    • Site-wide: 1,162

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

genetics more details view paper
  • Downloaded 3,481 times
  • Download rankings, all-time:
    • Site-wide: 5,552
    • In genetics: 184
  • Year to date:
    • Site-wide: 42,916
  • Since beginning of last month:
    • Site-wide: 118,159

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

bioinformatics more details view paper
  • Downloaded 3,007 times
  • Download rankings, all-time:
    • Site-wide: 6,877
    • In bioinformatics: 631
  • Year to date:
    • Site-wide: 63,511
  • Since beginning of last month:
    • Site-wide: 124,344

Rare coding variation illuminates the allelic architecture, risk genes, cellular expression patterns, and phenotypic context of autism

neurology more details view paper
  • Downloaded 2,693 times
  • Download rankings, all-time:
    • Site-wide: 8,064
    • In neurology: 24
  • Year to date:
    • Site-wide: 915
  • Since beginning of last month:
    • Site-wide: 4,149

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

genomics more details view paper
  • Downloaded 2,665 times
  • Download rankings, all-time:
    • Site-wide: 8,187
    • In genomics: 766
  • Year to date:
    • Site-wide: 160,749
  • Since beginning of last month:
    • Site-wide: None

Indexcov: fast coverage quality control for whole-genome sequencing

genomics more details view paper
  • Downloaded 1,934 times
  • Download rankings, all-time:
    • Site-wide: 13,207
    • In genomics: 1,212
  • Year to date:
    • Site-wide: 162,479
  • Since beginning of last month:
    • Site-wide: 69,588

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

genomics more details view paper
  • Downloaded 1,343 times
  • Download rankings, all-time:
    • Site-wide: 23,268
    • In genomics: 2,006
  • Year to date:
    • Site-wide: 118,031
  • Since beginning of last month:
    • Site-wide: 122,616

Functional annotation of rare structural variation in the human brain

genomics more details view paper
  • Downloaded 1,342 times
  • Download rankings, all-time:
    • Site-wide: 23,286
    • In genomics: 2,007
  • Year to date:
    • Site-wide: 130,874
  • Since beginning of last month:
    • Site-wide: 135,180

Systematic evaluation of genome sequencing for the assessment of fetal structural anomalies

genomics more details view paper
  • Downloaded 1,318 times
  • Download rankings, all-time:
    • Site-wide: 23,967
    • In genomics: 2,099
  • Year to date:
    • Site-wide: 30,445
  • Since beginning of last month:
    • Site-wide: None

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

genomics more details view paper
  • Downloaded 1,170 times
  • Download rankings, all-time:
    • Site-wide: 28,905
    • In genomics: 2,447
  • Year to date:
    • Site-wide: 97,875
  • Since beginning of last month:
    • Site-wide: 38,616

Balanced chromosomal rearrangements offer insights into coding and noncoding genomic features associated with developmental disorders

genetic and genomic medicine more details view paper
  • Downloaded 1,056 times
  • Download rankings, all-time:
    • Site-wide: 33,832
    • In genetic and genomic medicine: 218
  • Year to date:
    • Site-wide: 2,552
  • Since beginning of last month:
    • Site-wide: 6,252

CNV-ClinViewer: Enhancing the clinical interpretation of large copy-number variants online

genetic and genomic medicine more details view paper
  • Downloaded 356 times
  • Download rankings, all-time:
    • Site-wide: 132,075
    • In genetic and genomic medicine: 881
  • Year to date:
    • Site-wide: 15,003
  • Since beginning of last month:
    • Site-wide: None

Tissue and cell-type specific molecular and functional signatures of 16p11.2 reciprocal genomic disorder across mouse brain and human neuronal models

genomics more details view paper
  • Downloaded 265 times
  • Download rankings, all-time:
    • Site-wide: 158,674
    • In genomics: 8,323
  • Year to date:
    • Site-wide: 23,968
  • Since beginning of last month:
    • Site-wide: 16,213

Genome-wide analysis of Structural Variants in Parkinson's Disease using Short-Read Sequencing data

genetics more details view paper
  • Downloaded 214 times
  • Download rankings, all-time:
    • Site-wide: 172,437
    • In genetics: None
  • Year to date:
    • Site-wide: 32,599
  • Since beginning of last month:
    • Site-wide: None

GATK-gCNV: A Rare Copy Number Variant Discovery Algorithm and Its Application to Exome Sequencing in the UK Biobank

genomics more details view paper
  • Downloaded 210 times
  • Download rankings, all-time:
    • Site-wide: 173,630
    • In genomics: None
  • Year to date:
    • Site-wide: 33,630
  • Since beginning of last month:
    • Site-wide: None

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