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Author: Jonathan Sebat

Rankings

  • All-time downloads: 27,992 (rank: 6,765 (tie) )
  • Categories:
    • bioinformatics: 6,164 (rank: 1,992 )
    • genetic and genomic medicine: 1,099 (rank: 3,292 (tie) )
    • genetics: 3,088 (rank: 6,373 (tie) )
    • genomics: 15,594 (rank: 1,073 )
    • neuroscience: 2,047 (rank: 12,260 (tie) )

Downloads per author, site-wide

Preprints

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

genomics more details view paper
  • Downloaded 8,416 times
  • Download rankings, all-time:
    • Site-wide: 1,214
    • In genomics: 99
  • Year to date:
    • Site-wide: 64,585
  • Since beginning of last month:
    • Site-wide: 93,300

MutPred2: inferring the molecular and phenotypic impact of amino acid variants

bioinformatics more details view paper
  • Downloaded 3,979 times
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    • Site-wide: 3,321
    • In bioinformatics: 292
  • Year to date:
    • Site-wide: 19,843
  • Since beginning of last month:
    • Site-wide: 15,698

Paternally inherited noncoding structural variants contribute to autism

genomics more details view paper
  • Downloaded 2,669 times
  • Download rankings, all-time:
    • Site-wide: 5,823
    • In genomics: 609
  • Year to date:
    • Site-wide: 48,346
  • Since beginning of last month:
    • Site-wide: 36,799

SV2: Accurate Structural Variation Genotyping and De Novo Mutation Detection

bioinformatics more details view paper
  • Downloaded 2,035 times
  • Download rankings, all-time:
    • Site-wide: 8,708
    • In bioinformatics: 977
  • Year to date:
    • Site-wide: 87,424
  • Since beginning of last month:
    • Site-wide: None

A contribution of novel CNVs to schizophrenia from a genome-wide study of 41,321 subjects

genetics more details view paper
  • Downloaded 1,830 times
  • Download rankings, all-time:
    • Site-wide: 10,174
    • In genetics: 448
  • Year to date:
    • Site-wide: 73,746
  • Since beginning of last month:
    • Site-wide: 93,265

Frequency and complexity of de novo structural mutation in autism

genomics more details view paper
  • Downloaded 1,685 times
  • Download rankings, all-time:
    • Site-wide: 11,470
    • In genomics: 1,177
  • Year to date:
    • Site-wide: 117,733
  • Since beginning of last month:
    • Site-wide: None

Common DNA sequence variation influences 3-dimensional conformation of the human genome

genomics more details view paper
  • Downloaded 1,510 times
  • Download rankings, all-time:
    • Site-wide: 13,432
    • In genomics: 1,378
  • Year to date:
    • Site-wide: 128,357
  • Since beginning of last month:
    • Site-wide: 56,392

Cortical Organoids Model Early Brain Development Disrupted by 16p11.2 Copy Number Variants in Autism

neuroscience more details view paper
  • Downloaded 1,276 times
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    • Site-wide: 17,412
    • In neuroscience: 2,056
  • Year to date:
    • Site-wide: 12,226
  • Since beginning of last month:
    • Site-wide: 4,952

A phenotypic spectrum of autism is attributable to the combined effects of rare variants, polygenic risk and sex

genetic and genomic medicine more details view paper
  • Downloaded 1,099 times
  • Download rankings, all-time:
    • Site-wide: 21,706
    • In genetic and genomic medicine: 90
  • Year to date:
    • Site-wide: 2,987
  • Since beginning of last month:
    • Site-wide: 91,467

Quantification of autism recurrence risk by direct assessment of paternal sperm mosaicism

genetics more details view paper
  • Downloaded 774 times
  • Download rankings, all-time:
    • Site-wide: 35,811
    • In genetics: 1,619
  • Year to date:
    • Site-wide: 113,232
  • Since beginning of last month:
    • Site-wide: 71,383

Autism-linked Cullin3 germline haploinsufficiency impacts cytoskeletal dynamics and cortical neurogenesis through RhoA signaling

neuroscience more details view paper
  • Downloaded 771 times
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    • Site-wide: 36,051
    • In neuroscience: 4,825
  • Year to date:
    • Site-wide: 33,076
  • Since beginning of last month:
    • Site-wide: 66,961

DeepMosaic: Control-independent mosaic single nucleotide variant detection using deep convolutional neural networks

genomics more details view paper
  • Downloaded 548 times
  • Download rankings, all-time:
    • Site-wide: 56,088
    • In genomics: 4,209
  • Year to date:
    • Site-wide: 14,962
  • Since beginning of last month:
    • Site-wide: 9,217

Oligogenic effects of 16p11.2 copy number variation on craniofacial development

genetics more details view paper
  • Downloaded 484 times
  • Download rankings, all-time:
    • Site-wide: 64,787
    • In genetics: 2,852
  • Year to date:
    • Site-wide: 139,605
  • Since beginning of last month:
    • Site-wide: 107,886

Polymorphic SNPs, short tandem repeats and structural variants are responsible for differential gene expression across C57BL/6 and C57BL/10 substrains

genomics more details view paper
  • Downloaded 464 times
  • Download rankings, all-time:
    • Site-wide: 67,780
    • In genomics: 4,766
  • Year to date:
    • Site-wide: 23,184
  • Since beginning of last month:
    • Site-wide: 102,122

Temporal stability of human sperm mosaic mutations results in life-long threat of transmission to offspring

genomics more details view paper
  • Downloaded 302 times
  • Download rankings, all-time:
    • Site-wide: 99,288
    • In genomics: 6,035
  • Year to date:
    • Site-wide: 63,553
  • Since beginning of last month:
    • Site-wide: 82,205

Customized de novo mutation detection for any variant calling pipeline: SynthDNM

bioinformatics more details view paper
  • Downloaded 150 times
  • Download rankings, all-time:
    • Site-wide: 136,132
    • In bioinformatics: 10,647
  • Year to date:
    • Site-wide: 46,490
  • Since beginning of last month:
    • Site-wide: 133,871

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