Rxivist logo

Author: Harrison Brand

Rankings

  • All-time downloads: 88,699 (rank: 2,655 )
  • Categories:
    • bioinformatics: 2,997 (rank: 6,623 (tie) )
    • genetic and genomic medicine: 4,737 (rank: 1,104 )
    • genetics: 12,305 (rank: 1,555 )
    • genomics: 62,521 (rank: 200 )
    • 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 26,264 times
  • Download rankings, all-time:
    • Site-wide: 411
    • In genomics: 12
  • Year to date:
    • Site-wide: 4,002
  • Since beginning of last month:
    • Site-wide: 2,891

An open resource of structural variation for medical and population genetics

genomics more details view paper
  • Downloaded 11,676 times
  • Download rankings, all-time:
    • Site-wide: 1,117
    • In genomics: 67
  • Year to date:
    • Site-wide: 22,207
  • Since beginning of last month:
    • Site-wide: 18,772

Large-scale exome sequencing study implicates both developmental and functional changes in the neurobiology of autism

genetics more details view paper
  • Downloaded 11,044 times
  • Download rankings, all-time:
    • Site-wide: 1,205
    • In genetics: 24
  • Year to date:
    • Site-wide: 13,919
  • Since beginning of last month:
    • Site-wide: 16,409

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

genomics more details view paper
  • Downloaded 8,608 times
  • Download rankings, all-time:
    • Site-wide: 1,645
    • In genomics: 111
  • Year to date:
    • Site-wide: 87,358
  • Since beginning of last month:
    • Site-wide: None

High coverage whole genome sequencing of the expanded 1000 Genomes Project cohort including 602 trios

genomics more details view paper
  • Downloaded 7,470 times
  • Download rankings, all-time:
    • Site-wide: 1,972
    • In genomics: 152
  • Year to date:
    • Site-wide: 634
  • Since beginning of last month:
    • Site-wide: 3,640

A cross-disorder dosage sensitivity map of the human genome

genetic and genomic medicine more details view paper
  • Downloaded 3,890 times
  • Download rankings, all-time:
    • Site-wide: 4,868
    • In genetic and genomic medicine: 26
  • Year to date:
    • Site-wide: 2,629
  • Since beginning of last month:
    • Site-wide: None

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

bioinformatics more details view paper
  • Downloaded 3,039 times
  • Download rankings, all-time:
    • Site-wide: 6,983
    • In bioinformatics: 631
  • Year to date:
    • Site-wide: 62,338
  • Since beginning of last month:
    • Site-wide: 170,197

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

neurology more details view paper
  • Downloaded 2,766 times
  • Download rankings, all-time:
    • Site-wide: 7,989
    • In neurology: 24
  • Year to date:
    • Site-wide: 1,046
  • Since beginning of last month:
    • Site-wide: 9,070

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 2,693 times
  • Download rankings, all-time:
    • Site-wide: 8,313
    • In genomics: 766
  • Year to date:
    • Site-wide: 138,332
  • Since beginning of last month:
    • Site-wide: 41,929

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

genomics more details view paper
  • Downloaded 1,455 times
  • Download rankings, all-time:
    • Site-wide: 21,347
    • In genomics: 2,099
  • Year to date:
    • Site-wide: 18,502
  • Since beginning of last month:
    • Site-wide: 12,442

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

genomics more details view paper
  • Downloaded 1,360 times
  • Download rankings, all-time:
    • Site-wide: 23,770
    • In genomics: 2,006
  • Year to date:
    • Site-wide: 120,207
  • Since beginning of last month:
    • Site-wide: 121,363

Functional annotation of rare structural variation in the human brain

genomics more details view paper
  • Downloaded 1,357 times
  • Download rankings, all-time:
    • Site-wide: 23,861
    • In genomics: 2,007
  • Year to date:
    • Site-wide: 136,464
  • Since beginning of last month:
    • Site-wide: 58,211

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

genomics more details view paper
  • Downloaded 1,180 times
  • Download rankings, all-time:
    • Site-wide: 29,772
    • In genomics: 2,447
  • Year to date:
    • Site-wide: 109,517
  • Since beginning of last month:
    • Site-wide: 80,499

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

genetic and genomic medicine more details view paper
  • Downloaded 1,131 times
  • Download rankings, all-time:
    • Site-wide: 31,838
    • In genetic and genomic medicine: 218
  • Year to date:
    • Site-wide: 2,834
  • Since beginning of last month:
    • Site-wide: 11,621

Structural disruption of genomic regions containing ultraconserved elements is associated with neurodevelopmental phenotypes

genomics more details view paper
  • Downloaded 885 times
  • Download rankings, all-time:
    • Site-wide: 46,289
    • In genomics: 3,444
  • Year to date:
    • Site-wide: 144,258
  • Since beginning of last month:
    • Site-wide: 69,713

Evidence for secondary-variant genetic burden and non-random distribution across biological modules in a recessive ciliopathy

genetics more details view paper
  • Downloaded 819 times
  • Download rankings, all-time:
    • Site-wide: 52,157
    • In genetics: 2,031
  • Year to date:
    • Site-wide: 136,025
  • Since beginning of last month:
    • Site-wide: None

De novo structural mutation rates and gamete-of-origin biases revealed through genome sequencing of 2,396 families

genomics more details view paper
  • Downloaded 732 times
  • Download rankings, all-time:
    • Site-wide: 61,479
    • In genomics: 4,242
  • Year to date:
    • Site-wide: 144,821
  • Since beginning of last month:
    • Site-wide: 153,404

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 717 times
  • Download rankings, all-time:
    • Site-wide: 63,291
    • In genomics: None
  • Year to date:
    • Site-wide: 5,918
  • Since beginning of last month:
    • Site-wide: 480

Coding de novo mutations identified by WGS reveal novel orofacial cleft genes

genetics more details view paper
  • Downloaded 601 times
  • Download rankings, all-time:
    • Site-wide: 80,171
    • In genetics: 3,082
  • Year to date:
    • Site-wide: 116,560
  • Since beginning of last month:
    • Site-wide: 100,588

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

genetics more details view paper
  • Downloaded 469 times
  • Download rankings, all-time:
    • Site-wide: 107,515
    • In genetics: None
  • Year to date:
    • Site-wide: 11,958
  • Since beginning of last month:
    • Site-wide: 10,035

Missense variants affecting the actin-binding domains of PLS3 cause X-linked congenital diaphragmatic hernia and body wall defects

genetic and genomic medicine more details view paper
  • Downloaded 265 times
  • Download rankings, all-time:
    • Site-wide: 164,861
    • In genetic and genomic medicine: 1,179
  • Year to date:
    • Site-wide: 92,876
  • Since beginning of last month:
    • Site-wide: 87,577

Phenotype and genetic analysis of data collected within the first year of NeuroDev: A Pilot Study

genetic and genomic medicine more details view paper
  • Downloaded 166 times
  • Download rankings, all-time:
    • Site-wide: 189,447
    • In genetic and genomic medicine: None
  • Year to date:
    • Site-wide: 57,827
  • Since beginning of last month:
    • Site-wide: 19,875

Rare variants found in clinical gene panels illuminate the genetic and allelic architecture of orofacial clefting

genetic and genomic medicine more details view paper
  • Downloaded 112 times
  • Download rankings, all-time:
    • Site-wide: 199,240
    • In genetic and genomic medicine: None
  • Year to date:
    • Site-wide: 85,718
  • Since beginning of last month:
    • Site-wide: 79,854

PanLingua

News