Author: Stacey Gabriel

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Preprints

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

• Downloaded 24,880 times
• Download rankings, all-time:
  • Site-wide: 314
  • In genomics: 11
• Year to date:
  • Site-wide: 2,975
• Since beginning of last month:
  • Site-wide: 22,793

An open resource of structural variation for medical and population genetics

• Downloaded 11,229 times
• Download rankings, all-time:
  • Site-wide: 832
  • In genomics: 57
• Year to date:
  • Site-wide: 9,984
• Since beginning of last month:
  • Site-wide: 8,593

Scaling accurate genetic variant discovery to tens of thousands of samples

• Downloaded 8,838 times
• Download rankings, all-time:
  • Site-wide: 1,128
  • In genomics: 84
• Year to date:
  • Site-wide: 1,636
• Since beginning of last month:
  • Site-wide: 7,964

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

• Downloaded 8,465 times
• Download rankings, all-time:
  • Site-wide: 1,202
  • In genomics: 97
• Year to date:
  • Site-wide: 3,936
• Since beginning of last month:
  • Site-wide: 57,857

A reference panel of 64,976 haplotypes for genotype imputation

• Downloaded 4,602 times
• Download rankings, all-time:
  • Site-wide: 2,698
  • In genetics: 90
• Year to date:
  • Site-wide: 123,215
• Since beginning of last month:
  • Site-wide: 105,688

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

• Downloaded 4,117 times
• Download rankings, all-time:
  • Site-wide: 3,159
  • In epidemiology: 339
• Year to date:
  • Site-wide: 7,631
• Since beginning of last month:
  • Site-wide: 5,987

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

• Downloaded 2,416 times
• Download rankings, all-time:
  • Site-wide: 6,751
  • In genomics: 714
• Year to date:
  • Site-wide: 76,686
• Since beginning of last month:
  • Site-wide: 78,633

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

• Downloaded 1,941 times
• Download rankings, all-time:
  • Site-wide: 9,291
  • In bioinformatics: 1,057
• Year to date:
  • Site-wide: 2,686
• Since beginning of last month:
  • Site-wide: 53,168

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

• Downloaded 1,869 times
• Download rankings, all-time:
  • Site-wide: 9,819
  • In genomics: 999
• Year to date:
  • Site-wide: 108,820
• Since beginning of last month:
  • Site-wide: 106,707

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

• Downloaded 1,690 times
• Download rankings, all-time:
  • Site-wide: 11,382
  • In genetics: 505
• Year to date:
  • Site-wide: 92,641
• Since beginning of last month:
  • Site-wide: 79,989

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

• Downloaded 1,403 times
• Download rankings, all-time:
  • Site-wide: 15,061
  • In infectious diseases: 1,689
• Year to date:
  • Site-wide: 2,098
• Since beginning of last month:
  • Site-wide: 1,720

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

• Downloaded 1,164 times
• Download rankings, all-time:
  • Site-wide: 19,876
  • In genetics: 912
• Year to date:
  • Site-wide: 104,635
• Since beginning of last month:
  • Site-wide: 103,652

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

• Downloaded 1,068 times
• Download rankings, all-time:
  • Site-wide: 22,574
  • In infectious diseases: 2,035
• Year to date:
  • Site-wide: 3,075
• Since beginning of last month:
  • Site-wide: 11,816

Implementation of SARS-CoV2 Screening in K-12 Schools using In-School Pooled Molecular Testing and Deconvolution by Rapid Antigen Test

• Downloaded 854 times
• Download rankings, all-time:
  • Site-wide: 31,176
  • In public and global health: 549
• Year to date:
  • Site-wide: 4,248
• Since beginning of last month:
  • Site-wide: 2,263

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

• Downloaded 698 times
• Download rankings, all-time:
  • Site-wide: 41,185
  • In hematology: 34
• Year to date:
  • Site-wide: 8,773
• Since beginning of last month:
  • Site-wide: 43,311

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 692 times
• Download rankings, all-time:
  • Site-wide: 41,605
  • In genomics: 3,358
• Year to date:
  • Site-wide: 107,152
• Since beginning of last month:
  • Site-wide: 57,718

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

• Downloaded 459 times
• Download rankings, all-time:
  • Site-wide: 68,447
  • In genetics: 3,011
• Year to date:
  • Site-wide: 88,812
• Since beginning of last month:
  • Site-wide: 30,268

Combined tumor and immune signals from genomes or transcriptomes predict outcomes of checkpoint inhibition in melanoma

• Downloaded 373 times
• Download rankings, all-time:
  • Site-wide: 83,568
  • In genomics: 5,432
• Year to date:
  • Site-wide: 14,113
• Since beginning of last month:
  • Site-wide: 76,278

Whole genome sequencing as an investigational device for return of hereditary disease risk and pharmacogenomic results as part of the All of Us Research Program

• Downloaded 297 times
• Download rankings, all-time:
  • Site-wide: 100,181
  • In genetic and genomic medicine: 480
• Year to date:
  • Site-wide: 19,564
• Since beginning of last month:
  • Site-wide: 14,451

Evaluation of the Access Bio CareStartTM rapid SARS-CoV-2 antigen test in asymptomatic individuals tested at a community mass-testing program in Western Massachusetts

• Downloaded 227 times
• Download rankings, all-time:
  • Site-wide: 117,425
  • In infectious diseases: 4,862
• Year to date:
  • Site-wide: 28,082
• Since beginning of last month:
  • Site-wide: 4,239

Gene expression in African Americans and Latinos reveals ancestry-specific patterns of genetic architecture

• Downloaded 21 times
• Download rankings, all-time:
  • Site-wide: 153,502
  • In genetics: 5,932
• Year to date:
  • Site-wide: 150,446
• Since beginning of last month:
  • Site-wide: 23,510