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Author: Genomics England Research Consortium

  • Most recently observed institution: -

Rankings

  • All-time downloads: 4,800 (rank: 42,003 (tie) )
  • Categories:
    • bioinformatics: 749 (rank: 18,370 (tie) )
    • genetic and genomic medicine: 1,464 (rank: 1,265 )
    • genetics: 452 (rank: 26,857 (tie) )
    • genomics: 2,135 (rank: 11,025 (tie) )

Downloads per author, site-wide

Preprints

Age and Sex Differences in the Genetics of Cardiomyopathy

genetic and genomic medicine more details view paper

No download data for this paper yet.

Functional and in-silico interrogation of rare genomic variants impacting RNA splicing for the diagnosis of genomic disorders

genomics more details view paper
  • Downloaded 1,396 times
  • Download rankings, all-time:
    • Site-wide: 12,711
    • In genomics: 1,372
  • Year to date:
    • Site-wide: 15,761
  • Since beginning of last month:
    • Site-wide: 13,764

Non-coding variants upstream of MEF2C cause severe developmental disorder through three distinct loss-of-function mechanisms

genetic and genomic medicine more details view paper
  • Downloaded 767 times
  • Download rankings, all-time:
    • Site-wide: 30,459
    • In genetic and genomic medicine: 96
  • Year to date:
    • Site-wide: 16,335
  • Since beginning of last month:
    • Site-wide: 12,759

Genomic loci susceptible to systematic sequencing bias in clinical whole genomes

bioinformatics more details view paper
  • Downloaded 749 times
  • Download rankings, all-time:
    • Site-wide: 31,508
    • In bioinformatics: 3,545
  • Year to date:
    • Site-wide: 57,356
  • Since beginning of last month:
    • Site-wide: 74,720

Whole genome sequencing for diagnosis of neurological repeat expansion disorders

genomics more details view paper
  • Downloaded 739 times
  • Download rankings, all-time:
    • Site-wide: 32,076
    • In genomics: 2,848
  • Year to date:
    • Site-wide: 9,805
  • Since beginning of last month:
    • Site-wide: 16,214

Whole genome sequencing delineates regulatory and novel genic variants in childhood cardiomyopathy

genetic and genomic medicine more details view paper
  • Downloaded 360 times
  • Download rankings, all-time:
    • Site-wide: 73,287
    • In genetic and genomic medicine: 249
  • Year to date:
    • Site-wide: 13,396
  • Since beginning of last month:
    • Site-wide: 9,019

New pathogenic variants and insights into pathogenic mechanisms in GRK1-related Oguchi disease

genetics more details view paper
  • Downloaded 257 times
  • Download rankings, all-time:
    • Site-wide: 94,245
    • In genetics: 4,226
  • Year to date:
    • Site-wide: 101,109
  • Since beginning of last month:
    • Site-wide: 120,872

Harnessing the 100,000 Genomes Project whole genome sequencing data - an unbiased systematic tool to filter by biologically validated regions of functionality

genetic and genomic medicine more details view paper
  • Downloaded 202 times
  • Download rankings, all-time:
    • Site-wide: 106,431
    • In genetic and genomic medicine: 457
  • Year to date:
    • Site-wide: 93,441
  • Since beginning of last month:
    • Site-wide: 88,949

Delineating the molecular and phenotypic spectrum of the SETD1B-related syndrome

genetics more details view paper
  • Downloaded 195 times
  • Download rankings, all-time:
    • Site-wide: 107,918
    • In genetics: 4,727
  • Year to date:
    • Site-wide: 10,894
  • Since beginning of last month:
    • Site-wide: 8,422

KidneyNetwork: Using kidney-derived gene expression data to predict and prioritize novel genes involved in kidney disease

genetic and genomic medicine more details view paper
  • Downloaded 135 times
  • Download rankings, all-time:
    • Site-wide: 120,480
    • In genetic and genomic medicine: 561
  • Year to date:
    • Site-wide: 17,518
  • Since beginning of last month:
    • Site-wide: 4,802

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