Author: Stacey Gabriel

Downloads per author, site-wide

Preprints

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

• Downloaded 24,074 times
• Download rankings, all-time:
  • Site-wide: 259
  • In genomics: 10
• Year to date:
  • Site-wide: 2,323
• Since beginning of last month:
  • Site-wide: 2,323

An open resource of structural variation for medical and population genetics

• Downloaded 10,889 times
• Download rankings, all-time:
  • Site-wide: 663
  • In genomics: 52
• Year to date:
  • Site-wide: 6,741
• Since beginning of last month:
  • Site-wide: 6,741

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

• Downloaded 7,931 times
• Download rankings, all-time:
  • Site-wide: 1,000
  • In genomics: 95
• Year to date:
  • Site-wide: 1,665
• Since beginning of last month:
  • Site-wide: 1,665

Scaling accurate genetic variant discovery to tens of thousands of samples

• Downloaded 7,514 times
• Download rankings, all-time:
  • Site-wide: 1,076
  • In genomics: 104
• Year to date:
  • Site-wide: 1,606
• Since beginning of last month:
  • Site-wide: 1,606

A reference panel of 64,976 haplotypes for genotype imputation

• Downloaded 4,579 times
• Download rankings, all-time:
  • Site-wide: 2,094
  • In genetics: 79
• Year to date:
  • Site-wide: 53,290
• Since beginning of last month:
  • Site-wide: 53,290

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

• Downloaded 3,697 times
• Download rankings, all-time:
  • Site-wide: 2,834
  • In epidemiology: 285
• Year to date:
  • Site-wide: 5,951
• Since beginning of last month:
  • Site-wide: 5,951

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

• Downloaded 2,360 times
• Download rankings, all-time:
  • Site-wide: 5,453
  • In genomics: 638
• Year to date:
  • Site-wide: 34,386
• Since beginning of last month:
  • Site-wide: 34,386

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

• Downloaded 1,827 times
• Download rankings, all-time:
  • Site-wide: 7,881
  • In genomics: 887
• Year to date:
  • Site-wide: 83,418
• Since beginning of last month:
  • Site-wide: 83,418

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

• Downloaded 1,637 times
• Download rankings, all-time:
  • Site-wide: 9,352
  • In genetics: 461
• Year to date:
  • Site-wide: 65,503
• Since beginning of last month:
  • Site-wide: 65,503

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

• Downloaded 1,122 times
• Download rankings, all-time:
  • Site-wide: 16,433
  • In genetics: 831
• Year to date:
  • Site-wide: 65,932
• Since beginning of last month:
  • Site-wide: 65,932

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

• Downloaded 771 times
• Download rankings, all-time:
  • Site-wide: 28,214
  • In bioinformatics: 3,265
• Year to date:
  • Site-wide: None
• Since beginning of last month:
  • Site-wide: None

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

• Downloaded 759 times
• Download rankings, all-time:
  • Site-wide: 28,797
  • In infectious diseases: 1,894
• Year to date:
  • Site-wide: 627
• Since beginning of last month:
  • Site-wide: 627

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 660 times
• Download rankings, all-time:
  • Site-wide: 34,916
  • In genomics: 3,051
• Year to date:
  • Site-wide: 46,603
• Since beginning of last month:
  • Site-wide: 46,603

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

• Downloaded 400 times
• Download rankings, all-time:
  • Site-wide: 62,571
  • In genetics: 2,961
• Year to date:
  • Site-wide: 74,128
• Since beginning of last month:
  • Site-wide: 74,128

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

• Downloaded 378 times
• Download rankings, all-time:
  • Site-wide: 66,078
  • In hematology: 40
• Year to date:
  • Site-wide: 3,981
• Since beginning of last month:
  • Site-wide: 3,981