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Author: E. E. Eichler

Rankings

  • All-time downloads: 58,914 (rank: 661 out of 423,771)
  • Categories:
    • bioinformatics: 11,234 (rank: 494 out of 35,889)
    • evolutionary biology: 726 (rank: 7,415 (tie) out of 21,530)
    • genetics: 27,520 (rank: 194 out of 37,726)
    • genomics: 19,434 (rank: 475 out of 44,222)

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Preprints

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

genetics more details view paper
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    • Site-wide: 91 out of 100,306
    • In genetics: 5 out of 4,997
  • Year to date:
    • Site-wide: 5,675 out of 100,306
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    • Site-wide: None out of 100,306

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

genomics more details view paper
  • Downloaded 8,204 times
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    • Site-wide: 365 out of 100,306
    • In genomics: 72 out of 6,221
  • Year to date:
    • Site-wide: 21,146 out of 100,306
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Telomere-to-telomere assembly of a complete human X chromosome

bioinformatics more details view paper
  • Downloaded 5,754 times
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    • In bioinformatics: 99 out of 9,217
  • Year to date:
    • Site-wide: 621 out of 100,306
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Computational Pan-Genomics: Status, Promises and Challenges

genomics more details view paper
  • Downloaded 4,379 times
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    • In genomics: 213 out of 6,221
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Neurodevelopmental disease genes implicated by de novo mutation and CNV morbidity

genetics more details view paper
  • Downloaded 3,848 times
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    • Site-wide: 1,317 out of 100,306
    • In genetics: 98 out of 4,997
  • Year to date:
    • Site-wide: 3,195 out of 100,306
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Improved assembly and variant detection of a haploid human genome using single-molecule, high-fidelity long reads

genomics more details view paper
  • Downloaded 3,055 times
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    • In genomics: 382 out of 6,221
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Exome sequencing of 457 autism families recruited online provides evidence for novel ASD genes

genetics more details view paper
  • Downloaded 2,500 times
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    • In genetics: 204 out of 4,997
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HiCanu: accurate assembly of segmental duplications, satellites, and allelic variants from high-fidelity long reads

bioinformatics more details view paper
  • Downloaded 2,175 times
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    • In bioinformatics: 624 out of 9,217
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A fully phased accurate assembly of an individual human genome

bioinformatics more details view paper
  • Downloaded 1,932 times
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    • In bioinformatics: 748 out of 9,217
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    • Site-wide: None out of 100,306

Discovery of large genomic inversions using pooled clone sequencing

bioinformatics more details view paper
  • Downloaded 1,373 times
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    • Site-wide: 7,402 out of 100,306
    • In bioinformatics: 1,295 out of 9,217
  • Year to date:
    • Site-wide: 80,651 out of 100,306
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    • Site-wide: None out of 100,306

Single haplotype assembly of the human genome from a hydatidiform mole

genomics more details view paper
  • Downloaded 1,372 times
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    • Site-wide: 7,411 out of 100,306
    • In genomics: 1,131 out of 6,221
  • Year to date:
    • Site-wide: 86,379 out of 100,306
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    • Site-wide: None out of 100,306

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

genetics more details view paper
  • Downloaded 1,206 times
  • Download rankings, all-time:
    • Site-wide: 9,206 out of 100,306
    • In genetics: 632 out of 4,997
  • Year to date:
    • Site-wide: 68,442 out of 100,306
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    • Site-wide: None out of 100,306

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 883 times
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    • Site-wide: 15,226 out of 100,306
    • In genomics: 1,959 out of 6,221
  • Year to date:
    • Site-wide: 20,194 out of 100,306
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    • Site-wide: None out of 100,306

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

genomics more details view paper
  • Downloaded 838 times
  • Download rankings, all-time:
    • Site-wide: 16,485 out of 100,306
    • In genomics: 2,070 out of 6,221
  • Year to date:
    • Site-wide: 88,794 out of 100,306
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    • Site-wide: None out of 100,306

Functional Characterization of the Morpheus Gene Family

evolutionary biology more details view paper
  • Downloaded 726 times
  • Download rankings, all-time:
    • Site-wide: 20,501 out of 100,306
    • In evolutionary biology: 1,251 out of 5,990
  • Year to date:
    • Site-wide: 53,353 out of 100,306
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    • Site-wide: None out of 100,306

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

genetics more details view paper
  • Downloaded 712 times
  • Download rankings, all-time:
    • Site-wide: 21,090 out of 100,306
    • In genetics: 1,316 out of 4,997
  • Year to date:
    • Site-wide: 3,473 out of 100,306
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A novel framework for characterizing genomic haplotype diversity in the human immunoglobulin heavy chain locus

genomics more details view paper
  • Downloaded 703 times
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    • Site-wide: 21,466 out of 100,306
    • In genomics: 2,452 out of 6,221
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The human-specific BOLA2 duplication modifies iron homeostasis and anemia predisposition in chromosome 16p11.2 autism patients

genetics more details view paper
  • Downloaded 304 times
  • Download rankings, all-time:
    • Site-wide: 57,003 out of 100,306
    • In genetics: 3,163 out of 4,997
  • Year to date:
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