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Author: Stephen S. Rich

Rankings

  • All-time downloads: 93,902 (rank: 2,405 )
  • Categories:
    • bioinformatics: 3,687 (rank: 5,138 (tie) )
    • developmental biology: 1,403 (rank: 4,519 (tie) )
    • epidemiology: 892 (rank: 16,726 (tie) )
    • genetic and genomic medicine: 11,465 (rank: 125 )
    • genetics: 39,643 (rank: 163 )
    • genomics: 31,111 (rank: 446 )
    • hematology: 953 (rank: 650 (tie) )

Downloads per author, site-wide

Preprints

Recovery of trait heritability from whole genome sequence data

genetics more details view paper
  • Downloaded 14,948 times
  • Download rankings, all-time:
    • Site-wide: 806
    • In genetics: 14
  • Year to date:
    • Site-wide: 2,866
  • Since beginning of last month:
    • Site-wide: 3,331

An open resource of structural variation for medical and population genetics

genomics more details view paper
  • Downloaded 11,676 times
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    • Site-wide: 1,116
    • In genomics: 67
  • Year to date:
    • Site-wide: 22,324
  • Since beginning of last month:
    • Site-wide: 20,716

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

genomics more details view paper
  • Downloaded 9,246 times
  • Download rankings, all-time:
    • Site-wide: 1,494
    • In genomics: 99
  • Year to date:
    • Site-wide: 11,510
  • Since beginning of last month:
    • Site-wide: 13,494

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

bioinformatics more details view paper
  • Downloaded 3,506 times
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    • Site-wide: 5,665
    • In bioinformatics: 516
  • Year to date:
    • Site-wide: 5,001
  • Since beginning of last month:
    • Site-wide: 68,685

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

genomics more details view paper
  • Downloaded 3,482 times
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    • Site-wide: 5,735
    • In genomics: 526
  • Year to date:
    • Site-wide: 37,626
  • Since beginning of last month:
    • Site-wide: None

Trans-ethnic and ancestry-specific blood-cell genetics in 746,667 individuals from 5 global populations

genetics more details view paper
  • Downloaded 3,125 times
  • Download rankings, all-time:
    • Site-wide: 6,730
    • In genetics: 237
  • Year to date:
    • Site-wide: 125,612
  • Since beginning of last month:
    • Site-wide: 89,583

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 2,495 times
  • Download rankings, all-time:
    • Site-wide: 9,321
    • In genetic and genomic medicine: 55
  • Year to date:
    • Site-wide: 7,231
  • Since beginning of last month:
    • Site-wide: 7,332

Clonal hematopoiesis is driven by aberrant activation of TCL1A

genetics more details view paper
  • Downloaded 2,260 times
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    • Site-wide: 10,830
    • In genetics: 502
  • Year to date:
    • Site-wide: 1,610
  • Since beginning of last month:
    • Site-wide: 1,845

The Polygenic and Monogenic Basis of Blood Traits and Diseases

genetic and genomic medicine more details view paper
  • Downloaded 2,234 times
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    • Site-wide: 11,006
    • In genetic and genomic medicine: 61
  • Year to date:
    • Site-wide: 126,181
  • Since beginning of last month:
    • Site-wide: 105,816

Genetic interactions drive heterogeneity in causal variant effect sizes for gene expression and complex traits

genetics more details view paper
  • Downloaded 2,199 times
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    • Site-wide: 11,301
    • In genetics: 441
  • Year to date:
    • Site-wide: 2,568
  • Since beginning of last month:
    • Site-wide: 8,204

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

genomics more details view paper
  • Downloaded 2,174 times
  • Download rankings, all-time:
    • Site-wide: 11,503
    • In genomics: 1,030
  • Year to date:
    • Site-wide: 182,309
  • Since beginning of last month:
    • Site-wide: 45,778

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

genetics more details view paper
  • Downloaded 1,963 times
  • Download rankings, all-time:
    • Site-wide: 13,420
    • In genetics: 506
  • Year to date:
    • Site-wide: 162,188
  • Since beginning of last month:
    • Site-wide: 79,461

Genetic Associations with Subjective Well-Being Also Implicate Depression and Neuroticism

genetics more details view paper
  • Downloaded 1,850 times
  • Download rankings, all-time:
    • Site-wide: 14,678
    • In genetics: 568
  • Year to date:
    • Site-wide: 153,199
  • Since beginning of last month:
    • Site-wide: None

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

genetics more details view paper
  • Downloaded 1,837 times
  • Download rankings, all-time:
    • Site-wide: 14,843
    • In genetics: 581
  • Year to date:
    • Site-wide: 69,887
  • Since beginning of last month:
    • Site-wide: 159,257

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

genetics more details view paper
  • Downloaded 1,693 times
  • Download rankings, all-time:
    • Site-wide: 16,798
    • In genetics: 677
  • Year to date:
    • Site-wide: 70,514
  • Since beginning of last month:
    • Site-wide: 53,689

Fine-mapping identifies causal variants for RA and T1D in DNASE1L3, SIRPG, MEG3, TNFAIP3 and CD28/CTLA4 loci

genetics more details view paper
  • Downloaded 1,600 times
  • Download rankings, all-time:
    • Site-wide: 18,393
    • In genetics: 734
  • Year to date:
    • Site-wide: 150,822
  • Since beginning of last month:
    • Site-wide: 20,736

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

developmental biology more details view paper
  • Downloaded 1,458 times
  • Download rankings, all-time:
    • Site-wide: 21,293
    • In developmental biology: 338
  • Year to date:
    • Site-wide: 41,214
  • Since beginning of last month:
    • Site-wide: 20,785

Genome-wide association study of diabetic kidney disease highlights biology involved in renal basement membrane collagen

genetics more details view paper
  • Downloaded 1,345 times
  • Download rankings, all-time:
    • Site-wide: 24,222
    • In genetics: 953
  • Year to date:
    • Site-wide: 132,009
  • Since beginning of last month:
    • Site-wide: 75,390

The Trans-Ancestral Genomic Architecture of Glycaemic Traits

genetics more details view paper
  • Downloaded 1,285 times
  • Download rankings, all-time:
    • Site-wide: 26,053
    • In genetics: 1,018
  • Year to date:
    • Site-wide: 105,640
  • Since beginning of last month:
    • Site-wide: 108,748

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

genomics more details view paper
  • Downloaded 1,174 times
  • Download rankings, all-time:
    • Site-wide: 30,038
    • In genomics: 2,432
  • Year to date:
    • Site-wide: 157,116
  • Since beginning of last month:
    • Site-wide: 131,768

Causal effects on complex traits are similar across segments of different continental ancestries within admixed individuals

genetic and genomic medicine more details view paper
  • Downloaded 1,117 times
  • Download rankings, all-time:
    • Site-wide: 32,497
    • In genetic and genomic medicine: None
  • Year to date:
    • Site-wide: 2,915
  • Since beginning of last month:
    • Site-wide: 931

Genetic analysis of mitochondrial DNA copy number and associated traits identifies loci implicated in nucleotide metabolism, platelet activation, and megakaryocyte proliferation, and reveals a causal association of mitochondrial function with mortality

genetics more details view paper
  • Downloaded 1,106 times
  • Download rankings, all-time:
    • Site-wide: 32,967
    • In genetics: 1,306
  • Year to date:
    • Site-wide: 50,841
  • Since beginning of last month:
    • Site-wide: 86,853

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

genetic and genomic medicine more details view paper
  • Downloaded 1,073 times
  • Download rankings, all-time:
    • Site-wide: 34,513
    • In genetic and genomic medicine: 203
  • Year to date:
    • Site-wide: 108,742
  • Since beginning of last month:
    • Site-wide: 143,974

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

hematology more details view paper
  • Downloaded 995 times
  • Download rankings, all-time:
    • Site-wide: 38,740
    • In hematology: 40
  • Year to date:
    • Site-wide: 74,386
  • Since beginning of last month:
    • Site-wide: 155,644

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 919 times
  • Download rankings, all-time:
    • Site-wide: 43,775
    • In genetics: 1,700
  • Year to date:
    • Site-wide: 196,012
  • Since beginning of last month:
    • Site-wide: 81,440

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 900 times
  • Download rankings, all-time:
    • Site-wide: 45,171
    • In genomics: 3,365
  • Year to date:
    • Site-wide: 144,462
  • Since beginning of last month:
    • Site-wide: 60,005

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 797 times
  • Download rankings, all-time:
    • Site-wide: 54,253
    • In genetics: 2,091
  • Year to date:
    • Site-wide: 198,952
  • Since beginning of last month:
    • Site-wide: 101,304

Bidirectional Mendelian randomization supports bidirectional causality between telomere length and clonal hematopoiesis of intermediate potential

genetic and genomic medicine more details view paper
  • Downloaded 790 times
  • Download rankings, all-time:
    • Site-wide: 54,940
    • In genetic and genomic medicine: 322
  • Year to date:
    • Site-wide: 28,186
  • Since beginning of last month:
    • Site-wide: 95,727

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 771 times
  • Download rankings, all-time:
    • Site-wide: 56,958
    • In genetic and genomic medicine: 352
  • Year to date:
    • Site-wide: 63,310
  • Since beginning of last month:
    • Site-wide: 19,153

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 755 times
  • Download rankings, all-time:
    • Site-wide: 58,753
    • In genomics: 4,067
  • Year to date:
    • Site-wide: 179,672
  • Since beginning of last month:
    • Site-wide: 74,538

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

genomics more details view paper
  • Downloaded 721 times
  • Download rankings, all-time:
    • Site-wide: 62,806
    • In genomics: 4,337
  • Year to date:
    • Site-wide: 42,333
  • Since beginning of last month:
    • Site-wide: None

Multiethnic Meta-analysis Identifies New Loci for Pulmonary Function

genetics more details view paper
  • Downloaded 710 times
  • Download rankings, all-time:
    • Site-wide: 64,262
    • In genetics: 2,461
  • Year to date:
    • Site-wide: 162,208
  • Since beginning of last month:
    • Site-wide: 73,772

Multi-ancestry genome-wide association study improves resolution of genes, pathways and pleiotropy for lung function and chronic obstructive pulmonary disease

genetic and genomic medicine more details view paper
  • Downloaded 695 times
  • Download rankings, all-time:
    • Site-wide: 66,214
    • In genetic and genomic medicine: 527
  • Year to date:
    • Site-wide: 6,267
  • Since beginning of last month:
    • Site-wide: 5,098

Joint analysis reveals shared autoimmune disease associations and identifies common mechanisms

genetic and genomic medicine more details view paper
  • Downloaded 656 times
  • Download rankings, all-time:
    • Site-wide: 71,829
    • In genetic and genomic medicine: 482
  • Year to date:
    • Site-wide: 40,807
  • Since beginning of last month:
    • Site-wide: 34,270

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

genetics more details view paper
  • Downloaded 654 times
  • Download rankings, all-time:
    • Site-wide: 72,089
    • In genetics: 2,748
  • Year to date:
    • Site-wide: 124,122
  • Since beginning of last month:
    • Site-wide: 112,209

Cross-Ancestry Investigation of Venous Thromboembolism Genomic Predictors

genetic and genomic medicine more details view paper
  • Downloaded 641 times
  • Download rankings, all-time:
    • Site-wide: 73,959
    • In genetic and genomic medicine: 592
  • Year to date:
    • Site-wide: 7,197
  • Since beginning of last month:
    • Site-wide: 9,665

Multiset correlation and factor analysis enables exploration of multi-omic data

genomics more details view paper
  • Downloaded 639 times
  • Download rankings, all-time:
    • Site-wide: 74,401
    • In genomics: 5,971
  • Year to date:
    • Site-wide: 7,250
  • Since beginning of last month:
    • Site-wide: 19,717

The functional impact of rare variation across the regulatory cascade

genomics more details view paper
  • Downloaded 637 times
  • Download rankings, all-time:
    • Site-wide: 74,648
    • In genomics: None
  • Year to date:
    • Site-wide: 7,284
  • Since beginning of last month:
    • Site-wide: 3,744

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 628 times
  • Download rankings, all-time:
    • Site-wide: 76,046
    • In genomics: 4,932
  • Year to date:
    • Site-wide: 159,506
  • Since beginning of last month:
    • Site-wide: 124,540

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

genetics more details view paper
  • Downloaded 582 times
  • Download rankings, all-time:
    • Site-wide: 83,603
    • In genetics: 3,170
  • Year to date:
    • Site-wide: 182,101
  • Since beginning of last month:
    • Site-wide: 127,756

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

genetics more details view paper
  • Downloaded 577 times
  • Download rankings, all-time:
    • Site-wide: 84,612
    • In genetics: 3,184
  • Year to date:
    • Site-wide: 179,908
  • Since beginning of last month:
    • Site-wide: 79,496

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

genetics more details view paper
  • Downloaded 557 times
  • Download rankings, all-time:
    • Site-wide: 88,400
    • In genetics: 3,338
  • Year to date:
    • Site-wide: 182,073
  • Since beginning of last month:
    • Site-wide: 101,045

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 550 times
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    • Site-wide: 89,787
    • In epidemiology: 3,814
  • Year to date:
    • Site-wide: 162,855
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    • Site-wide: None

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 484 times
  • Download rankings, all-time:
    • Site-wide: 103,966
    • In genetic and genomic medicine: 638
  • Year to date:
    • Site-wide: 90,310
  • Since beginning of last month:
    • Site-wide: 144,806

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 469 times
  • Download rankings, all-time:
    • Site-wide: 107,697
    • In genetics: 4,057
  • Year to date:
    • Site-wide: 198,596
  • Since beginning of last month:
    • Site-wide: 127,535

Monogenic and Polygenic Contributions to QTc Prolongation in the Population

genetic and genomic medicine more details view paper
  • Downloaded 451 times
  • Download rankings, all-time:
    • Site-wide: 111,693
    • In genetic and genomic medicine: 705
  • Year to date:
    • Site-wide: 66,930
  • Since beginning of last month:
    • Site-wide: 149,789

Amerind ancestry predicts the impact of FADS genetic variation on omega-3 PUFA deficiency, cardiometabolic and inflammatory risk in Hispanic populations

genetic and genomic medicine more details view paper
  • Downloaded 378 times
  • Download rankings, all-time:
    • Site-wide: 131,623
    • In genetic and genomic medicine: 873
  • Year to date:
    • Site-wide: 48,065
  • Since beginning of last month:
    • Site-wide: 170,683

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

epidemiology more details view paper
  • Downloaded 369 times
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    • Site-wide: 134,099
    • In epidemiology: 5,431
  • Year to date:
    • Site-wide: 209,015
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    • Site-wide: None

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 365 times
  • Download rankings, all-time:
    • Site-wide: 135,374
    • In genetic and genomic medicine: 892
  • Year to date:
    • Site-wide: 132,689
  • Since beginning of last month:
    • Site-wide: 159,033

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 339 times
  • Download rankings, all-time:
    • Site-wide: 142,927
    • In genetic and genomic medicine: 941
  • Year to date:
    • Site-wide: 174,585
  • Since beginning of last month:
    • Site-wide: 183,494

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

bioinformatics more details view paper
  • Downloaded 335 times
  • Download rankings, all-time:
    • Site-wide: 144,381
    • In bioinformatics: 10,956
  • Year to date:
    • Site-wide: 54,443
  • Since beginning of last month:
    • Site-wide: None

Protein prediction for trait mapping in diverse populations

genomics more details view paper
  • Downloaded 323 times
  • Download rankings, all-time:
    • Site-wide: 148,006
    • In genomics: 7,585
  • Year to date:
    • Site-wide: 122,456
  • Since beginning of last month:
    • Site-wide: 116,902

The impact of Mendelian sleep and circadian genetic variants in a population setting

genetic and genomic medicine more details view paper
  • Downloaded 315 times
  • Download rankings, all-time:
    • Site-wide: 150,377
    • In genetic and genomic medicine: 1,038
  • Year to date:
    • Site-wide: 23,224
  • Since beginning of last month:
    • Site-wide: 116,659

Genome-wide association study of cryptosporidiosis in infants implicates PRKCA

genetics more details view paper
  • Downloaded 302 times
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    • Site-wide: 154,099
    • In genetics: 5,658
  • Year to date:
    • Site-wide: 178,535
  • Since beginning of last month:
    • Site-wide: 128,654

Genome-wide Discovery for Diabetes-Dependent Triglycerides-Associated Loci

genetic and genomic medicine more details view paper
  • Downloaded 290 times
  • Download rankings, all-time:
    • Site-wide: 157,587
    • In genetic and genomic medicine: 1,088
  • Year to date:
    • Site-wide: 26,395
  • Since beginning of last month:
    • Site-wide: 117,246

Proteomic Fingerprinting: A novel privacy concern

genetic and genomic medicine more details view paper
  • Downloaded 282 times
  • Download rankings, all-time:
    • Site-wide: 160,212
    • In genetic and genomic medicine: 1,157
  • Year to date:
    • Site-wide: 27,642
  • Since beginning of last month:
    • Site-wide: 38,408

An integrated multi-omics analysis of sleep-disordered breathing traits across multiple blood cell types

genetic and genomic medicine more details view paper
  • Downloaded 118 times
  • Download rankings, all-time:
    • Site-wide: 198,398
    • In genetic and genomic medicine: 1,520
  • Year to date:
    • Site-wide: 82,242
  • Since beginning of last month:
    • Site-wide: 30,583

Shifts in isoform usage underlie transcriptional differences in regulatory T cells in type 1 diabetes

genetics more details view paper
  • Downloaded 62 times
  • Download rankings, all-time:
    • Site-wide: 206,970
    • In genetics: None
  • Year to date:
    • Site-wide: 142,631
  • Since beginning of last month:
    • Site-wide: 146,108

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