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Author: Stephen S Rich

Rankings

  • All-time downloads: 62,298 (rank: 2,083 )
  • Categories:
    • bioinformatics: 1,251 (rank: 11,190 (tie) )
    • developmental biology: 963 (rank: 3,844 (tie) )
    • epidemiology: 723 (rank: 10,595 (tie) )
    • genetic and genomic medicine: 4,438 (rank: 130 )
    • genetics: 27,623 (rank: 217 )
    • genomics: 26,922 (rank: 330 )
    • hematology: 378 (rank: 477 (tie) )

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Preprints

Benchmarking Association Analyses of Continuous Exposures with RNA-seq in Observational Studies

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Recovery of trait heritability from whole genome sequence data

genetics more details view paper
  • Downloaded 11,356 times
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    • Site-wide: 625
    • In genetics: 17
  • Year to date:
    • Site-wide: 2,178
  • Since beginning of last month:
    • Site-wide: 1,799

An open resource of structural variation for medical and population genetics

genomics more details view paper
  • Downloaded 10,889 times
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    • Site-wide: 665
    • In genomics: 52
  • Year to date:
    • Site-wide: 7,655
  • Since beginning of last month:
    • Site-wide: 10,338

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

genomics more details view paper
  • Downloaded 8,033 times
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    • Site-wide: 989
    • In genomics: 93
  • Year to date:
    • Site-wide: 1,349
  • Since beginning of last month:
    • Site-wide: 1,213

Inherited Causes of Clonal Hematopoiesis of Indeterminate Potential in TOPMed Whole Genomes

genomics more details view paper
  • Downloaded 2,773 times
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    • Site-wide: 4,291
    • In genomics: 494
  • Year to date:
    • Site-wide: 6,914
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Trans-ethnic and ancestry-specific blood-cell genetics in 746,667 individuals from 5 global populations

genetics more details view paper
  • Downloaded 2,264 times
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    • Site-wide: 5,822
    • In genetics: 278
  • Year to date:
    • Site-wide: 4,183
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    • Site-wide: 2,485

Deep-coverage whole genome sequences and blood lipids among 16,324 individuals

genomics more details view paper
  • Downloaded 2,088 times
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    • Site-wide: 6,517
    • In genomics: 742
  • Year to date:
    • Site-wide: 110,527
  • Since beginning of last month:
    • Site-wide: 90,607

The Polygenic and Monogenic Basis of Blood Traits and Diseases

genetic and genomic medicine more details view paper
  • Downloaded 1,949 times
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    • Site-wide: 7,220
    • In genetic and genomic medicine: 20
  • Year to date:
    • Site-wide: 22,638
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    • Site-wide: 17,193

Refining The Accuracy Of Validated Target Identification Through Coding Variant Fine-Mapping In Type 2 Diabetes

genetics more details view paper
  • Downloaded 1,826 times
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    • Site-wide: 7,952
    • In genetics: 387
  • Year to date:
    • Site-wide: None
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Genetic Associations with Subjective Well-Being Also Implicate Depression and Neuroticism

genetics more details view paper
  • Downloaded 1,704 times
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    • Site-wide: 8,858
    • In genetics: 440
  • Year to date:
    • Site-wide: 54,830
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Fine-mapping identifies causal variants for RA and T1D in DNASE1L3, SIRPG, MEG3, TNFAIP3 and CD28/CTLA4 loci

genetics more details view paper
  • Downloaded 1,433 times
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    • Site-wide: 11,439
    • In genetics: 570
  • Year to date:
    • Site-wide: 108,444
  • Since beginning of last month:
    • Site-wide: None

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

bioinformatics more details view paper
  • Downloaded 1,251 times
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    • Site-wide: 14,006
    • In bioinformatics: 1,725
  • Year to date:
    • Site-wide: 1,286
  • Since beginning of last month:
    • Site-wide: 690

Population sequencing data reveal a compendium of mutational processes in human germline

genetics more details view paper
  • Downloaded 1,235 times
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    • Site-wide: 14,318
    • In genetics: 736
  • Year to date:
    • Site-wide: 19,167
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Genome-wide association study of diabetic kidney disease highlights biology involved in renal basement membrane collagen

genetics more details view paper
  • Downloaded 1,160 times
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    • Site-wide: 15,728
    • In genetics: 802
  • Year to date:
    • Site-wide: 89,027
  • Since beginning of last month:
    • Site-wide: 74,415

Using genotype data to distinguish pleiotropy from heterogeneity: deciphering coheritability in autoimmune and neuropsychiatric diseases

genomics more details view paper
  • Downloaded 1,040 times
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    • Site-wide: 18,547
    • In genomics: 1,912
  • Year to date:
    • Site-wide: 84,095
  • Since beginning of last month:
    • Site-wide: 75,171

Genome-wide association studies identify 137 loci for DNA methylation biomarkers of ageing

genetics more details view paper
  • Downloaded 1,026 times
  • Download rankings, all-time:
    • Site-wide: 18,944
    • In genetics: 945
  • Year to date:
    • Site-wide: 6,237
  • Since beginning of last month:
    • Site-wide: 5,887

Trans-ancestry genetic study of type 2 diabetes highlights the power of diverse populations for discovery and translation

genetic and genomic medicine more details view paper
  • Downloaded 980 times
  • Download rankings, all-time:
    • Site-wide: 20,217
    • In genetic and genomic medicine: 61
  • Year to date:
    • Site-wide: 6,473
  • Since beginning of last month:
    • Site-wide: 6,351

The maternal-fetal interface of successful pregnancies and impact of fetal sex using single cell sequencing

developmental biology more details view paper
  • Downloaded 963 times
  • Download rankings, all-time:
    • Site-wide: 20,694
    • In developmental biology: 378
  • Year to date:
    • Site-wide: 17,982
  • Since beginning of last month:
    • Site-wide: 26,785

Efficient variant set mixed model association tests for continuous and binary traits in large-scale whole genome sequencing studies

genetics more details view paper
  • Downloaded 829 times
  • Download rankings, all-time:
    • Site-wide: 25,654
    • In genetics: 1,273
  • Year to date:
    • Site-wide: 90,489
  • Since beginning of last month:
    • Site-wide: 92,978

Determinants of penetrance and variable expressivity in monogenic metabolic conditions across 77,184 exomes

genetic and genomic medicine more details view paper
  • Downloaded 765 times
  • Download rankings, all-time:
    • Site-wide: 28,697
    • In genetic and genomic medicine: 82
  • Year to date:
    • Site-wide: 24,769
  • Since beginning of last month:
    • Site-wide: 22,107

Loss-of-function genomic variants with impact on liver-related blood traits highlight potential therapeutic targets for cardiovascular disease

genomics more details view paper
  • Downloaded 739 times
  • Download rankings, all-time:
    • Site-wide: 30,068
    • In genomics: 2,749
  • Year to date:
    • Site-wide: 48,816
  • Since beginning of last month:
    • Site-wide: 58,792

The Trans-Ancestral Genomic Architecture of Glycaemic Traits

genetics more details view paper
  • Downloaded 711 times
  • Download rankings, all-time:
    • Site-wide: 31,775
    • In genetics: 1,578
  • Year to date:
    • Site-wide: 14,335
  • Since beginning of last month:
    • Site-wide: 10,256

Trans-ethnic genome-wide association study provides insight into effector genes and molecular mechanisms for kidney function and highlights a causal effect on kidney-specific disease aetiologies

genetics more details view paper
  • Downloaded 709 times
  • Download rankings, all-time:
    • Site-wide: 31,905
    • In genetics: 1,590
  • Year to date:
    • Site-wide: 104,972
  • Since beginning of last month:
    • Site-wide: 78,988

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

genomics more details view paper
  • Downloaded 660 times
  • Download rankings, all-time:
    • Site-wide: 35,147
    • In genomics: 3,075
  • Year to date:
    • Site-wide: 51,674
  • Since beginning of last month:
    • Site-wide: 65,315

Multiethnic Meta-analysis Identifies New Loci for Pulmonary Function

genetics more details view paper
  • Downloaded 597 times
  • Download rankings, all-time:
    • Site-wide: 39,941
    • In genetics: 1,934
  • Year to date:
    • Site-wide: 110,101
  • Since beginning of last month:
    • Site-wide: None

Rare coding variants in 35 genes associate with circulating lipid levels: a multi-ancestry analysis of 170,000 exomes

genetics more details view paper
  • Downloaded 504 times
  • Download rankings, all-time:
    • Site-wide: 49,173
    • In genetics: 2,346
  • Year to date:
    • Site-wide: 3,601
  • Since beginning of last month:
    • Site-wide: None

Multi-ancestry analysis of gene-sleep interactions in 126,926 individuals identifies multiple novel blood lipid loci that contribute to our understanding of sleep-associated adverse blood lipid profile

genomics more details view paper
  • Downloaded 501 times
  • Download rankings, all-time:
    • Site-wide: 49,473
    • In genomics: 3,916
  • Year to date:
    • Site-wide: 107,853
  • Since beginning of last month:
    • Site-wide: 95,163

Genome-Wide Association Study Reveals Genetic Link Between Diarrhea-Associated Entamoeba histolytica Infection And Inflammatory Bowel Disease

genetics more details view paper
  • Downloaded 475 times
  • Download rankings, all-time:
    • Site-wide: 52,597
    • In genetics: 2,496
  • Year to date:
    • Site-wide: 89,560
  • Since beginning of last month:
    • Site-wide: 62,899

Meta-analysis of exome array data identifies six novel genetic loci for lung function

genetics more details view paper
  • Downloaded 474 times
  • Download rankings, all-time:
    • Site-wide: 52,696
    • In genetics: 2,503
  • Year to date:
    • Site-wide: 88,353
  • Since beginning of last month:
    • Site-wide: 74,694

Large Meta-Analysis in the CHARGE Consortium Provides Evidence For an Association of Serum Vitamin D With Pulmonary Function

epidemiology more details view paper
  • Downloaded 433 times
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    • Site-wide: 58,111
    • In epidemiology: 2,473
  • Year to date:
    • Site-wide: 94,763
  • Since beginning of last month:
    • Site-wide: 91,734

Whole-Genome Association Analyses of Sleep-disordered Breathing Phenotypes in the NHLBI TOPMed Program

genetics more details view paper
  • Downloaded 426 times
  • Download rankings, all-time:
    • Site-wide: 59,014
    • In genetics: 2,800
  • Year to date:
    • Site-wide: 62,768
  • Since beginning of last month:
    • Site-wide: 61,412

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

hematology more details view paper
  • Downloaded 378 times
  • Download rankings, all-time:
    • Site-wide: 66,477
    • In hematology: 40
  • Year to date:
    • Site-wide: 4,550
  • Since beginning of last month:
    • Site-wide: 4,163

Impact of rare and common genetic variants on diabetes diagnosis by hemoglobin A1c in multi-ancestry cohorts: The Trans-Omics for Precision Medicine Program.

genetics more details view paper
  • Downloaded 374 times
  • Download rankings, all-time:
    • Site-wide: 67,092
    • In genetics: 3,139
  • Year to date:
    • Site-wide: 66,766
  • Since beginning of last month:
    • Site-wide: 79,362

Role of Rare and Low Frequency Variants in Gene-Alcohol Interactions on Plasma Lipid Levels

epidemiology more details view paper
  • Downloaded 290 times
  • Download rankings, all-time:
    • Site-wide: 82,356
    • In epidemiology: 3,367
  • Year to date:
    • Site-wide: 62,433
  • Since beginning of last month:
    • Site-wide: 48,848

A system for phenotype harmonization in the NHLBI Trans-Omics for Precision Medicine (TOPMed) Program

genetics more details view paper
  • Downloaded 286 times
  • Download rankings, all-time:
    • Site-wide: 83,176
    • In genetics: 3,833
  • Year to date:
    • Site-wide: 27,325
  • Since beginning of last month:
    • Site-wide: 38,146

Rare Non-coding Variation Identified by Large Scale Whole Genome Sequencing Reveals Unexplained Heritability of Type 2 Diabetes: Trans-Omics for Precision Medicine (TOPMed) Program

genetic and genomic medicine more details view paper
  • Downloaded 271 times
  • Download rankings, all-time:
    • Site-wide: 86,381
    • In genetic and genomic medicine: 290
  • Year to date:
    • Site-wide: 20,802
  • Since beginning of last month:
    • Site-wide: 18,038

Genome-wide association study of cryptosporidiosis in infants implicates PRKCA

genetics more details view paper
  • Downloaded 234 times
  • Download rankings, all-time:
    • Site-wide: 94,335
    • In genetics: 4,303
  • Year to date:
    • Site-wide: 112,679
  • Since beginning of last month:
    • Site-wide: 93,825

Multi-ancestry genome-wide gene-sleep interactions identify novel loci for blood pressure

genomics more details view paper
  • Downloaded 199 times
  • Download rankings, all-time:
    • Site-wide: 101,916
    • In genomics: 6,014
  • Year to date:
    • Site-wide: 99,026
  • Since beginning of last month:
    • Site-wide: 100,787

Transcriptional survey of peripheral blood links lower oxygen saturation during sleep with reduced expressions of CD1D and RAB20 that is reversed by CPAP therapy

genetic and genomic medicine more details view paper
  • Downloaded 177 times
  • Download rankings, all-time:
    • Site-wide: 106,485
    • In genetic and genomic medicine: 434
  • Year to date:
    • Site-wide: 112,966
  • Since beginning of last month:
    • Site-wide: 87,302

Whole Genome Sequence Association Analysis of Fasting Glucose and Fasting Insulin Levels in Diverse Cohorts from the NHLBI TOPMed Program

genetic and genomic medicine more details view paper
  • Downloaded 148 times
  • Download rankings, all-time:
    • Site-wide: 112,344
    • In genetic and genomic medicine: 487
  • Year to date:
    • Site-wide: 6,751
  • Since beginning of last month:
    • Site-wide: 12,553

BinomiRare: A carriers-only test for association of rare genetic variants with a binary outcome for mixed models and any case-control proportion

genetic and genomic medicine more details view paper
  • Downloaded 148 times
  • Download rankings, all-time:
    • Site-wide: 112,352
    • In genetic and genomic medicine: 486
  • Year to date:
    • Site-wide: 6,765
  • Since beginning of last month:
    • Site-wide: 9,924

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