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Author: Ryan L. Collins

  • ORCiD: http://orcid.org/0000-0003-1268-9995
  • Most recently observed institution: Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA 02114, USA; Program in Bioinformatics and Integrative Genomics, Harvard Medic

Rankings

  • All-time downloads: 64,431 (rank: 3,104 )
  • Categories:
    • bioinformatics: 2,889 (rank: 5,990 (tie) )
    • genetic and genomic medicine: 2,760 (rank: 1,565 (tie) )
    • genetics: 3,309 (rank: 6,333 (tie) )
    • genomics: 54,548 (rank: 200 )
    • neurology: 925 (rank: 2,034 (tie) )

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Preprints

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

genomics more details view paper
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    • Site-wide: 375
    • In genomics: 11
  • Year to date:
    • Site-wide: 5,393
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    • Site-wide: 5,084

An open resource of structural variation for medical and population genetics

genomics more details view paper
  • Downloaded 11,374 times
  • Download rankings, all-time:
    • Site-wide: 982
    • In genomics: 61
  • Year to date:
    • Site-wide: 6,276
  • Since beginning of last month:
    • Site-wide: 15,158

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

genomics more details view paper
  • Downloaded 8,498 times
  • Download rankings, all-time:
    • Site-wide: 1,403
    • In genomics: 102
  • Year to date:
    • Site-wide: 113,194
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    • Site-wide: 24,109

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

genetics more details view paper
  • Downloaded 3,309 times
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    • Site-wide: 4,984
    • In genetics: 179
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    • Site-wide: 41,523
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CNView: a visualization and annotation tool for copy number variation from whole-genome sequencing

bioinformatics more details view paper
  • Downloaded 2,889 times
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    • Site-wide: 6,058
    • In bioinformatics: 585
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A cross-disorder dosage sensitivity map of the human genome

genetic and genomic medicine more details view paper
  • Downloaded 2,760 times
  • Download rankings, all-time:
    • Site-wide: 6,454
    • In genetic and genomic medicine: 29
  • Year to date:
    • Site-wide: 1,891
  • Since beginning of last month:
    • Site-wide: 7,195

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 2,634 times
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    • Site-wide: 6,932
    • In genomics: 685
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    • Site-wide: 96,354

Indexcov: fast coverage quality control for whole-genome sequencing

genomics more details view paper
  • Downloaded 1,898 times
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    • Site-wide: 11,251
    • In genomics: 1,090
  • Year to date:
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Functional annotation of rare structural variation in the human brain

genomics more details view paper
  • Downloaded 1,291 times
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    • Site-wide: 20,074
    • In genomics: 1,844
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Dissecting the Causal Mechanism of X-Linked Dystonia-Parkinsonism by Integrating Genome and Transcriptome Assembly

genomics more details view paper
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    • In genomics: 1,853
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    • Site-wide: 50,670
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    • Site-wide: 117,651

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

genomics more details view paper
  • Downloaded 1,097 times
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    • Site-wide: 25,777
    • In genomics: 2,311
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    • Site-wide: 66,069
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    • Site-wide: 44,276

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

genomics more details view paper
  • Downloaded 1,093 times
  • Download rankings, all-time:
    • Site-wide: 25,919
    • In genomics: 2,316
  • Year to date:
    • Site-wide: 100,638
  • Since beginning of last month:
    • Site-wide: 19,820

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

neurology more details view paper
  • Downloaded 925 times
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    • Site-wide: 33,225
    • In neurology: 87
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    • Site-wide: 240
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