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Author: Evan E. Eichler

Rankings

  • All-time downloads: 65,237 (rank: 2,020 )
  • Categories:
    • bioinformatics: 14,209 (rank: 402 )
    • evolutionary biology: 783 (rank: 8,383 (tie) )
    • genetics: 28,931 (rank: 202 )
    • genomics: 20,906 (rank: 492 )
    • neurology: 408 (rank: 1,973 (tie) )

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Preprints

Ancient human genomes suggest three ancestral populations for present-day Europeans

genetics more details view paper
  • Downloaded 19,347 times
  • Download rankings, all-time:
    • Site-wide: 336
    • In genetics: 5
  • Year to date:
    • Site-wide: 7,207
  • Since beginning of last month:
    • Site-wide: 11,945

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

genomics more details view paper
  • Downloaded 8,336 times
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    • Site-wide: 953
    • In genomics: 84
  • Year to date:
    • Site-wide: 46,918
  • Since beginning of last month:
    • Site-wide: None

Telomere-to-telomere assembly of a complete human X chromosome

bioinformatics more details view paper
  • Downloaded 6,287 times
  • Download rankings, all-time:
    • Site-wide: 1,351
    • In bioinformatics: 94
  • Year to date:
    • Site-wide: 11,294
  • Since beginning of last month:
    • Site-wide: 10,751

Computational Pan-Genomics: Status, Promises and Challenges

genomics more details view paper
  • Downloaded 4,605 times
  • Download rankings, all-time:
    • Site-wide: 2,095
    • In genomics: 227
  • Year to date:
    • Site-wide: 18,732
  • Since beginning of last month:
    • Site-wide: 30,021

Neurodevelopmental disease genes implicated by de novo mutation and CNV morbidity

genetics more details view paper
  • Downloaded 4,379 times
  • Download rankings, all-time:
    • Site-wide: 2,253
    • In genetics: 88
  • Year to date:
    • Site-wide: 5,297
  • Since beginning of last month:
    • Site-wide: 5,691

Improved assembly and variant detection of a haploid human genome using single-molecule, high-fidelity long reads

genomics more details view paper
  • Downloaded 3,774 times
  • Download rankings, all-time:
    • Site-wide: 2,775
    • In genomics: 328
  • Year to date:
    • Site-wide: 3,333
  • Since beginning of last month:
    • Site-wide: 3,126

HiCanu: accurate assembly of segmental duplications, satellites, and allelic variants from high-fidelity long reads

bioinformatics more details view paper
  • Downloaded 3,136 times
  • Download rankings, all-time:
    • Site-wide: 3,659
    • In bioinformatics: 385
  • Year to date:
    • Site-wide: 6,314
  • Since beginning of last month:
    • Site-wide: 7,985

Exome sequencing of 457 autism families recruited online provides evidence for novel ASD genes

genetics more details view paper
  • Downloaded 2,627 times
  • Download rankings, all-time:
    • Site-wide: 4,703
    • In genetics: 218
  • Year to date:
    • Site-wide: 33,383
  • Since beginning of last month:
    • Site-wide: 43,336

A fully phased accurate assembly of an individual human genome

bioinformatics more details view paper
  • Downloaded 2,430 times
  • Download rankings, all-time:
    • Site-wide: 5,270
    • In bioinformatics: 600
  • Year to date:
    • Site-wide: 15,639
  • Since beginning of last month:
    • Site-wide: 24,135

Single haplotype assembly of the human genome from a hydatidiform mole

genomics more details view paper
  • Downloaded 1,429 times
  • Download rankings, all-time:
    • Site-wide: 11,549
    • In genomics: 1,285
  • Year to date:
    • Site-wide: 102,569
  • Since beginning of last month:
    • Site-wide: None

Discovery of large genomic inversions using pooled clone sequencing

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  • Downloaded 1,422 times
  • Download rankings, all-time:
    • Site-wide: 11,636
    • In bioinformatics: 1,449
  • Year to date:
    • Site-wide: 57,180
  • Since beginning of last month:
    • Site-wide: 76,694

A high-quality reference panel reveals the complexity and distribution of structural genome changes in a human population

genetics more details view paper
  • Downloaded 1,275 times
  • Download rankings, all-time:
    • Site-wide: 13,707
    • In genetics: 697
  • Year to date:
    • Site-wide: 64,441
  • Since beginning of last month:
    • Site-wide: 64,293

Sequencing of the human IG light chain loci from a hydatidiform mole BAC library reveals locus-specific signatures of genetic diversity

genomics more details view paper
  • Downloaded 959 times
  • Download rankings, all-time:
    • Site-wide: 20,943
    • In genomics: 2,109
  • Year to date:
    • Site-wide: 64,738
  • Since beginning of last month:
    • Site-wide: 68,168

Recent ultra-rare inherited mutations identify novel autism candidate risk genes

genetics more details view paper
  • Downloaded 943 times
  • Download rankings, all-time:
    • Site-wide: 21,475
    • In genetics: 1,059
  • Year to date:
    • Site-wide: 21,877
  • Since beginning of last month:
    • Site-wide: 13,085

Pangenome-based genome inference

bioinformatics more details view paper
  • Downloaded 934 times
  • Download rankings, all-time:
    • Site-wide: 21,767
    • In bioinformatics: 2,608
  • Year to date:
    • Site-wide: 5,529
  • Since beginning of last month:
    • Site-wide: 5,549

A novel framework for characterizing genomic haplotype diversity in the human immunoglobulin heavy chain locus

genomics more details view paper
  • Downloaded 932 times
  • Download rankings, all-time:
    • Site-wide: 21,840
    • In genomics: 2,182
  • Year to date:
    • Site-wide: 67,994
  • Since beginning of last month:
    • Site-wide: None

MIPSTR: a method for multiplex genotyping of germ-line and somatic STR variation across many individuals

genomics more details view paper
  • Downloaded 871 times
  • Download rankings, all-time:
    • Site-wide: 24,103
    • In genomics: 2,335
  • Year to date:
    • Site-wide: 102,578
  • Since beginning of last month:
    • Site-wide: 95,797

Functional Characterization of the Morpheus Gene Family

evolutionary biology more details view paper
  • Downloaded 783 times
  • Download rankings, all-time:
    • Site-wide: 27,907
    • In evolutionary biology: 1,363
  • Year to date:
    • Site-wide: 62,347
  • Since beginning of last month:
    • Site-wide: 51,295

Pathogenic SPTBN1 variants cause a novel autosomal dominant neurodevelopmental syndrome

neurology more details view paper
  • Downloaded 408 times
  • Download rankings, all-time:
    • Site-wide: 61,924
    • In neurology: 117
  • Year to date:
    • Site-wide: 10,376
  • Since beginning of last month:
    • Site-wide: 13,570

The human-specific BOLA2 duplication modifies iron homeostasis and anemia predisposition in chromosome 16p11.2 autism patients

genetics more details view paper
  • Downloaded 360 times
  • Download rankings, all-time:
    • Site-wide: 69,702
    • In genetics: 3,258
  • Year to date:
    • Site-wide: 57,238
  • Since beginning of last month:
    • Site-wide: 64,178

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