Author: Stephen S. Rich

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Preprints

Recovery of trait heritability from whole genome sequence data

• 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

• Downloaded 11,676 times
• Download rankings, all-time:
  • 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

• Downloaded 9,246 times
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  • 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

• Downloaded 3,506 times
• Download rankings, all-time:
  • 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

• 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

• 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

• 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

• 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

• 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

• 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

• 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

• 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

• Downloaded 1,850 times
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  • 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

• 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

• Downloaded 1,693 times
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  • 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

• 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

• Downloaded 1,458 times
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  • 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

• 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

• 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

• 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

• 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

• 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

• 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

• 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

• 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

• 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

• 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

• 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

• 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

• 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

• 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

• 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

• 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

• 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

• 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

• 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

• 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

• 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

• 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

• 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

• 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

• 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

• Downloaded 550 times
• Download rankings, all-time:
  • Site-wide: 89,787
  • In epidemiology: 3,814
• Year to date:
  • Site-wide: 162,855
• Since beginning of last month:
  • Site-wide: None

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

• 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.

• 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

• 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

• 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

• Downloaded 369 times
• Download rankings, all-time:
  • Site-wide: 134,099
  • In epidemiology: 5,431
• Year to date:
  • Site-wide: 209,015
• Since beginning of last month:
  • 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

• 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

• 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

• 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

• 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

• 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

• Downloaded 302 times
• Download rankings, all-time:
  • 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

• 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

• 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

• 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

• 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