Author: Evan E. Eichler

Downloads per author, site-wide

Preprints

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

• 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

• Downloaded 8,336 times
• Download rankings, all-time:
  • 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

• 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

• 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

• 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

• 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

• 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

• 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

• 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

• 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

• 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

• 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

• 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

• 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

• 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

• 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

• 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

• 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

• 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

• 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