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Author: Stephen Rich

Rankings

  • All-time downloads: 70,651 (rank: 2,224 )
  • Categories:
    • bioinformatics: 2,044 (rank: 7,856 (tie) )
    • developmental biology: 1,110 (rank: 3,880 (tie) )
    • epidemiology: 771 (rank: 12,859 (tie) )
    • genetic and genomic medicine: 6,514 (rank: 142 )
    • genetics: 31,322 (rank: 200 )
    • genomics: 28,201 (rank: 415 )
    • hematology: 689 (rank: 478 (tie) )

Downloads per author, site-wide

Preprints

Recovery of trait heritability from whole genome sequence data

genetics more details view paper
  • Downloaded 12,829 times
  • Download rankings, all-time:
    • Site-wide: 678
    • In genetics: 15
  • Year to date:
    • Site-wide: 1,413
  • Since beginning of last month:
    • Site-wide: 4,125

An open resource of structural variation for medical and population genetics

genomics more details view paper
  • Downloaded 11,182 times
  • Download rankings, all-time:
    • Site-wide: 817
    • In genomics: 56
  • Year to date:
    • Site-wide: 10,715
  • Since beginning of last month:
    • Site-wide: 65,022

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

genomics more details view paper
  • Downloaded 8,459 times
  • Download rankings, all-time:
    • Site-wide: 1,175
    • In genomics: 96
  • Year to date:
    • Site-wide: 3,661
  • Since beginning of last month:
    • Site-wide: 31,952

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

genomics more details view paper
  • Downloaded 3,094 times
  • Download rankings, all-time:
    • Site-wide: 4,631
    • In genomics: 487
  • Year to date:
    • Site-wide: 9,461
  • Since beginning of last month:
    • Site-wide: 29,459

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

genetics more details view paper
  • Downloaded 2,836 times
  • Download rankings, all-time:
    • Site-wide: 5,240
    • In genetics: 217
  • Year to date:
    • Site-wide: 4,408
  • Since beginning of last month:
    • Site-wide: 5,296

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

genomics more details view paper
  • Downloaded 2,108 times
  • Download rankings, all-time:
    • Site-wide: 8,095
    • In genomics: 843
  • Year to date:
    • Site-wide: 138,763
  • Since beginning of last month:
    • Site-wide: None

The Polygenic and Monogenic Basis of Blood Traits and Diseases

genetic and genomic medicine more details view paper
  • Downloaded 2,083 times
  • Download rankings, all-time:
    • Site-wide: 8,223
    • In genetic and genomic medicine: 35
  • Year to date:
    • Site-wide: 32,414
  • Since beginning of last month:
    • Site-wide: 105,439

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

bioinformatics more details view paper
  • Downloaded 1,941 times
  • Download rankings, all-time:
    • Site-wide: 9,137
    • In bioinformatics: 1,051
  • Year to date:
    • Site-wide: 2,487
  • Since beginning of last month:
    • Site-wide: 8,375

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

genetics more details view paper
  • Downloaded 1,881 times
  • Download rankings, all-time:
    • Site-wide: 9,587
    • In genetics: 417
  • Year to date:
    • Site-wide: 100,017
  • Since beginning of last month:
    • Site-wide: 61,447

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

genetics more details view paper
  • Downloaded 1,743 times
  • Download rankings, all-time:
    • Site-wide: 10,713
    • In genetics: 475
  • Year to date:
    • Site-wide: 93,551
  • Since beginning of last month:
    • Site-wide: 73,384

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

genetics more details view paper
  • Downloaded 1,486 times
  • Download rankings, all-time:
    • Site-wide: 13,527
    • In genetics: 619
  • Year to date:
    • Site-wide: 93,721
  • Since beginning of last month:
    • Site-wide: None

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

genetics more details view paper
  • Downloaded 1,443 times
  • Download rankings, all-time:
    • Site-wide: 14,155
    • In genetics: 650
  • Year to date:
    • Site-wide: 6,966
  • Since beginning of last month:
    • Site-wide: 109,921

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 1,440 times
  • Download rankings, all-time:
    • Site-wide: 14,198
    • In genetic and genomic medicine: 60
  • Year to date:
    • Site-wide: 6,285
  • Since beginning of last month:
    • Site-wide: 13,265

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

genetics more details view paper
  • Downloaded 1,430 times
  • Download rankings, all-time:
    • Site-wide: 14,343
    • In genetics: 660
  • Year to date:
    • Site-wide: 21,606
  • Since beginning of last month:
    • Site-wide: 7,675

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

genetics more details view paper
  • Downloaded 1,203 times
  • Download rankings, all-time:
    • Site-wide: 18,583
    • In genetics: 865
  • Year to date:
    • Site-wide: 100,286
  • Since beginning of last month:
    • Site-wide: None

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

developmental biology more details view paper
  • Downloaded 1,110 times
  • Download rankings, all-time:
    • Site-wide: 20,941
    • In developmental biology: 351
  • Year to date:
    • Site-wide: 27,674
  • Since beginning of last month:
    • Site-wide: 85,890

The Trans-Ancestral Genomic Architecture of Glycaemic Traits

genetics more details view paper
  • Downloaded 1,074 times
  • Download rankings, all-time:
    • Site-wide: 22,003
    • In genetics: 1,004
  • Year to date:
    • Site-wide: 10,170
  • Since beginning of last month:
    • Site-wide: 44,082

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

genomics more details view paper
  • Downloaded 1,072 times
  • Download rankings, all-time:
    • Site-wide: 22,044
    • In genomics: 2,096
  • Year to date:
    • Site-wide: 113,093
  • Since beginning of last month:
    • Site-wide: 72,795

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

genetic and genomic medicine more details view paper
  • Downloaded 916 times
  • Download rankings, all-time:
    • Site-wide: 27,655
    • In genetic and genomic medicine: 107
  • Year to date:
    • Site-wide: 29,881
  • Since beginning of last month:
    • Site-wide: 28,760

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 858 times
  • Download rankings, all-time:
    • Site-wide: 30,364
    • In genetics: 1,403
  • Year to date:
    • Site-wide: 118,533
  • Since beginning of last month:
    • Site-wide: 79,847

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 786 times
  • Download rankings, all-time:
    • Site-wide: 34,356
    • In genomics: 2,920
  • Year to date:
    • Site-wide: 83,021
  • Since beginning of last month:
    • Site-wide: 84,827

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 724 times
  • Download rankings, all-time:
    • Site-wide: 38,431
    • In genetics: 1,738
  • Year to date:
    • Site-wide: 143,188
  • Since beginning of last month:
    • Site-wide: 80,900

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

hematology more details view paper
  • Downloaded 689 times
  • Download rankings, all-time:
    • Site-wide: 41,061
    • In hematology: 33
  • Year to date:
    • Site-wide: 8,324
  • Since beginning of last month:
    • Site-wide: 38,737

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 684 times
  • Download rankings, all-time:
    • Site-wide: 41,498
    • In genomics: 3,366
  • Year to date:
    • Site-wide: 109,141
  • Since beginning of last month:
    • Site-wide: 87,436

Multiethnic Meta-analysis Identifies New Loci for Pulmonary Function

genetics more details view paper
  • Downloaded 625 times
  • Download rankings, all-time:
    • Site-wide: 46,603
    • In genetics: 2,093
  • Year to date:
    • Site-wide: 127,601
  • Since beginning of last month:
    • Site-wide: None

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 586 times
  • Download rankings, all-time:
    • Site-wide: 50,539
    • In genetics: 2,242
  • Year to date:
    • Site-wide: 6,782
  • Since beginning of last month:
    • Site-wide: 19,866

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 518 times
  • Download rankings, all-time:
    • Site-wide: 58,728
    • In genomics: 4,325
  • Year to date:
    • Site-wide: 141,409
  • Since beginning of last month:
    • Site-wide: None

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

genetics more details view paper
  • Downloaded 491 times
  • Download rankings, all-time:
    • Site-wide: 62,330
    • In genetics: 2,760
  • Year to date:
    • Site-wide: 137,605
  • Since beginning of last month:
    • Site-wide: None

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

genetics more details view paper
  • Downloaded 490 times
  • Download rankings, all-time:
    • Site-wide: 62,504
    • In genetics: 2,773
  • Year to date:
    • Site-wide: 22,651
  • Since beginning of last month:
    • Site-wide: 35,523

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

genetics more details view paper
  • Downloaded 485 times
  • Download rankings, all-time:
    • Site-wide: 63,131
    • In genetics: 2,794
  • Year to date:
    • Site-wide: 77,954
  • Since beginning of last month:
    • Site-wide: 86,289

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

genetics more details view paper
  • Downloaded 483 times
  • Download rankings, all-time:
    • Site-wide: 63,431
    • In genetics: 2,806
  • Year to date:
    • Site-wide: 146,870
  • Since beginning of last month:
    • Site-wide: None

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 451 times
  • Download rankings, all-time:
    • Site-wide: 68,333
    • In genetic and genomic medicine: 277
  • Year to date:
    • Site-wide: 24,109
  • Since beginning of last month:
    • Site-wide: 26,053

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 447 times
  • Download rankings, all-time:
    • Site-wide: 68,971
    • In epidemiology: 3,004
  • Year to date:
    • Site-wide: 141,477
  • Since beginning of last month:
    • Site-wide: None

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 412 times
  • Download rankings, all-time:
    • Site-wide: 74,726
    • In genetics: 3,272
  • Year to date:
    • Site-wide: 99,947
  • Since beginning of last month:
    • Site-wide: 56,001

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

genetic and genomic medicine more details view paper
  • Downloaded 327 times
  • Download rankings, all-time:
    • Site-wide: 91,616
    • In genetic and genomic medicine: 406
  • Year to date:
    • Site-wide: 15,694
  • Since beginning of last month:
    • Site-wide: 13,014

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

epidemiology more details view paper
  • Downloaded 324 times
  • Download rankings, all-time:
    • Site-wide: 92,260
    • In epidemiology: 3,870
  • Year to date:
    • Site-wide: 103,266
  • Since beginning of last month:
    • Site-wide: None

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

genomics more details view paper
  • Downloaded 289 times
  • Download rankings, all-time:
    • Site-wide: 100,202
    • In genomics: 6,065
  • Year to date:
    • Site-wide: 63,162
  • Since beginning of last month:
    • Site-wide: 23,775

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 281 times
  • Download rankings, all-time:
    • Site-wide: 101,944
    • In genetic and genomic medicine: 478
  • Year to date:
    • Site-wide: 19,390
  • Since beginning of last month:
    • Site-wide: None

Joint analysis reveals shared autoimmune disease associations and identifies common mechanisms

genetic and genomic medicine more details view paper
  • Downloaded 245 times
  • Download rankings, all-time:
    • Site-wide: 110,665
    • In genetic and genomic medicine: 553
  • Year to date:
    • Site-wide: 23,283
  • Since beginning of last month:
    • Site-wide: 105,760

Genome-wide association study of cryptosporidiosis in infants implicates PRKCA

genetics more details view paper
  • Downloaded 243 times
  • Download rankings, all-time:
    • Site-wide: 111,211
    • In genetics: 4,691
  • Year to date:
    • Site-wide: 150,636
  • Since beginning of last month:
    • Site-wide: None

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 223 times
  • Download rankings, all-time:
    • Site-wide: 116,332
    • In genetic and genomic medicine: 603
  • Year to date:
    • Site-wide: 102,637
  • Since beginning of last month:
    • Site-wide: 46,335

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 221 times
  • Download rankings, all-time:
    • Site-wide: 116,621
    • In genetic and genomic medicine: 607
  • Year to date:
    • Site-wide: 26,667
  • Since beginning of last month:
    • Site-wide: 50,582

Monogenic and Polygenic Contributions to QTc Prolongation in the Population

genetic and genomic medicine more details view paper
  • Downloaded 220 times
  • Download rankings, all-time:
    • Site-wide: 116,955
    • In genetic and genomic medicine: 610
  • Year to date:
    • Site-wide: 26,821
  • Since beginning of last month:
    • Site-wide: 54,677

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 107 times
  • Download rankings, all-time:
    • Site-wide: 142,535
    • In genetic and genomic medicine: 800
  • Year to date:
    • Site-wide: 59,386
  • Since beginning of last month:
    • Site-wide: None

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

bioinformatics more details view paper
  • Downloaded 103 times
  • Download rankings, all-time:
    • Site-wide: 143,314
    • In bioinformatics: 11,067
  • Year to date:
    • Site-wide: 61,737
  • Since beginning of last month:
    • Site-wide: 12,855

Protein prediction for trait mapping in diverse populations

genomics more details view paper
  • Downloaded 9 times
  • Download rankings, all-time:
    • Site-wide: 152,640
    • In genomics: 7,623
  • Year to date:
    • Site-wide: 152,519
  • Since beginning of last month:
    • Site-wide: 8,636

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