Rxivist logo

Author: Jonathan Sebat

Rankings

  • All-time downloads: 26,597 (rank: 6,329 )
  • Categories:
    • bioinformatics: 5,958 (rank: 1,911 )
    • genetic and genomic medicine: 690 (rank: 3,083 (tie) )
    • genetics: 3,021 (rank: 6,171 )
    • genomics: 15,131 (rank: 980 )
    • neuroscience: 1,797 (rank: 12,612 (tie) )

Downloads per author, site-wide

Preprints

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

genomics more details view paper
  • Downloaded 8,382 times
  • Download rankings, all-time:
    • Site-wide: 1,044
    • In genomics: 89
  • Year to date:
    • Site-wide: 45,701
  • Since beginning of last month:
    • Site-wide: 58,016

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

bioinformatics more details view paper
  • Downloaded 3,860 times
  • Download rankings, all-time:
    • Site-wide: 2,992
    • In bioinformatics: 278
  • Year to date:
    • Site-wide: 17,320
  • Since beginning of last month:
    • Site-wide: 12,195

Paternally inherited noncoding structural variants contribute to autism

genomics more details view paper
  • Downloaded 2,610 times
  • Download rankings, all-time:
    • Site-wide: 5,213
    • In genomics: 577
  • Year to date:
    • Site-wide: 39,634
  • Since beginning of last month:
    • Site-wide: 45,474

SV2: Accurate Structural Variation Genotyping and De Novo Mutation Detection

bioinformatics more details view paper
  • Downloaded 2,006 times
  • Download rankings, all-time:
    • Site-wide: 7,688
    • In bioinformatics: 910
  • Year to date:
    • Site-wide: 67,146
  • Since beginning of last month:
    • Site-wide: 69,899

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

genetics more details view paper
  • Downloaded 1,802 times
  • Download rankings, all-time:
    • Site-wide: 9,060
    • In genetics: 421
  • Year to date:
    • Site-wide: 51,470
  • Since beginning of last month:
    • Site-wide: 48,022

Frequency and complexity of de novo structural mutation in autism

genomics more details view paper
  • Downloaded 1,664 times
  • Download rankings, all-time:
    • Site-wide: 10,182
    • In genomics: 1,094
  • Year to date:
    • Site-wide: 97,727
  • Since beginning of last month:
    • Site-wide: 124,249

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

genomics more details view paper
  • Downloaded 1,490 times
  • Download rankings, all-time:
    • Site-wide: 11,948
    • In genomics: 1,288
  • Year to date:
    • Site-wide: 115,751
  • Since beginning of last month:
    • Site-wide: 81,448

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

neuroscience more details view paper
  • Downloaded 1,080 times
  • Download rankings, all-time:
    • Site-wide: 19,392
    • In neuroscience: 2,421
  • Year to date:
    • Site-wide: 13,108
  • Since beginning of last month:
    • Site-wide: 7,754

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

genetics more details view paper
  • Downloaded 746 times
  • Download rankings, all-time:
    • Site-wide: 32,832
    • In genetics: 1,568
  • Year to date:
    • Site-wide: 104,276
  • Since beginning of last month:
    • Site-wide: 105,164

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

neuroscience more details view paper
  • Downloaded 717 times
  • Download rankings, all-time:
    • Site-wide: 34,652
    • In neuroscience: 4,764
  • Year to date:
    • Site-wide: 22,212
  • Since beginning of last month:
    • Site-wide: 24,837

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 690 times
  • Download rankings, all-time:
    • Site-wide: 36,514
    • In genetic and genomic medicine: 118
  • Year to date:
    • Site-wide: 2,560
  • Since beginning of last month:
    • Site-wide: 426

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

genetics more details view paper
  • Downloaded 473 times
  • Download rankings, all-time:
    • Site-wide: 58,047
    • In genetics: 2,681
  • Year to date:
    • Site-wide: 111,465
  • Since beginning of last month:
    • Site-wide: 128,879

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 380 times
  • Download rankings, all-time:
    • Site-wide: 72,297
    • In genomics: 4,956
  • Year to date:
    • Site-wide: 16,909
  • Since beginning of last month:
    • Site-wide: 25,743

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

genomics more details view paper
  • Downloaded 352 times
  • Download rankings, all-time:
    • Site-wide: 77,303
    • In genomics: 5,177
  • Year to date:
    • Site-wide: 18,978
  • Since beginning of last month:
    • Site-wide: 18,336

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

genomics more details view paper
  • Downloaded 253 times
  • Download rankings, all-time:
    • Site-wide: 98,058
    • In genomics: 5,924
  • Year to date:
    • Site-wide: 54,218
  • Since beginning of last month:
    • Site-wide: 49,400

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

bioinformatics more details view paper
  • Downloaded 92 times
  • Download rankings, all-time:
    • Site-wide: 132,260
    • In bioinformatics: 10,382
  • Year to date:
    • Site-wide: 37,191
  • Since beginning of last month:
    • Site-wide: 22,856

PanLingua

News