Author: Stacey Gabriel

Downloads per author, site-wide

Preprints

The mutational constraint spectrum quantified from variation in 141,456 humans

• Downloaded 24,382 times
• Download rankings, all-time:
  • Site-wide: 273
  • In genomics: 10
• Year to date:
  • Site-wide: 2,454
• Since beginning of last month:
  • Site-wide: 3,094

An open resource of structural variation for medical and population genetics

• Downloaded 10,999 times
• Download rankings, all-time:
  • Site-wide: 714
  • In genomics: 53
• Year to date:
  • Site-wide: 8,780
• Since beginning of last month:
  • Site-wide: 12,723

Sequencing of 53,831 diverse genomes from the NHLBI TOPMed Program

• Downloaded 8,181 times
• Download rankings, all-time:
  • Site-wide: 1,049
  • In genomics: 95
• Year to date:
  • Site-wide: 2,341
• Since beginning of last month:
  • Site-wide: 5,676

Scaling accurate genetic variant discovery to tens of thousands of samples

• Downloaded 7,927 times
• Download rankings, all-time:
  • Site-wide: 1,086
  • In genomics: 100
• Year to date:
  • Site-wide: 1,659
• Since beginning of last month:
  • Site-wide: 1,939

A reference panel of 64,976 haplotypes for genotype imputation

• Downloaded 4,588 times
• Download rankings, all-time:
  • Site-wide: 2,260
  • In genetics: 82
• Year to date:
  • Site-wide: 81,660
• Since beginning of last month:
  • Site-wide: 104,328

Using viral load and epidemic dynamics to optimize pooled testing in resource constrained settings

• Downloaded 3,864 times
• Download rankings, all-time:
  • Site-wide: 2,892
  • In epidemiology: 302
• Year to date:
  • Site-wide: 6,156
• Since beginning of last month:
  • Site-wide: 10,287

A missense variant in Mitochondrial Amidoxime Reducing Component 1 gene and protection against liver disease

• Downloaded 2,370 times
• Download rankings, all-time:
  • Site-wide: 5,854
  • In genomics: 660
• Year to date:
  • Site-wide: 60,914
• Since beginning of last month:
  • Site-wide: 88,772

Characterization and remediation of sample index swaps by non-redundant dual indexing on massively parallel sequencing platforms

• Downloaded 1,845 times
• Download rankings, all-time:
  • Site-wide: 8,497
  • In genomics: 920
• Year to date:
  • Site-wide: 79,009
• Since beginning of last month:
  • Site-wide: 68,500

Genetic discovery and translational decision support from exome sequencing of 20,791 type 2 diabetes cases and 24,440 controls from five ancestries

• Downloaded 1,655 times
• Download rankings, all-time:
  • Site-wide: 9,978
  • In genetics: 477
• Year to date:
  • Site-wide: 72,456
• Since beginning of last month:
  • Site-wide: 62,029

Genotyping common, large structural variations in 5,202 genomes using pangenomes, the Giraffe mapper, and the vg toolkit

• Downloaded 1,446 times
• Download rankings, all-time:
  • Site-wide: 12,144
  • In bioinformatics: 1,479
• Year to date:
  • Site-wide: 2,059
• Since beginning of last month:
  • Site-wide: 4,019

Narrow-sense heritability estimation of complex traits using identity-by-descent information.

• Downloaded 1,138 times
• Download rankings, all-time:
  • Site-wide: 17,420
  • In genetics: 849
• Year to date:
  • Site-wide: 76,167
• Since beginning of last month:
  • Site-wide: 71,182

Performance and Implementation Evaluation of the Abbott BinaxNOW Rapid Antigen Test in a High-throughput Drive-through Community Testing Site in Massachusetts

• Downloaded 1,023 times
• Download rankings, all-time:
  • Site-wide: 20,418
  • In infectious diseases: 1,710
• Year to date:
  • Site-wide: 1,142
• Since beginning of last month:
  • Site-wide: 6,430

Use of >100,000 NHLBI Trans-Omics for Precision Medicine (TOPMed) Consortium whole genome sequences improves imputation quality and detection of rare variant associations in admixed African and Hispanic/Latino populations

• Downloaded 667 times
• Download rankings, all-time:
  • Site-wide: 37,169
  • In genomics: 3,160
• Year to date:
  • Site-wide: 78,307
• Since beginning of last month:
  • Site-wide: 108,702

Whole genome sequencing association analysis of quantitative red blood cell phenotypes: the NHLBI TOPMed program

• Downloaded 518 times
• Download rankings, all-time:
  • Site-wide: 50,808
  • In hematology: 33
• Year to date:
  • Site-wide: 5,520
• Since beginning of last month:
  • Site-wide: 7,004

Heterozygous ATP-binding Cassette Transporter G5 Gene Deficiency and Risk of Coronary Artery Disease

• Downloaded 410 times
• Download rankings, all-time:
  • Site-wide: 65,515
  • In genetics: 3,019
• Year to date:
  • Site-wide: 92,692
• Since beginning of last month:
  • Site-wide: 111,403

Performance and Operational Evaluation of the Access Bio CareStart Rapid Antigen Test in a High-throughput Drive-through Community Testing Site in Massachusetts

• Downloaded 252 times
• Download rankings, all-time:
  • Site-wide: 96,102
  • In infectious diseases: 3,707
• Year to date:
  • Site-wide: 8,441
• Since beginning of last month:
  • Site-wide: 2,618