Author: Stephen Rich

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Preprints

Recovery of trait heritability from whole genome sequence data

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  • Site-wide: 678
  • In genetics: 15
• Year to date:
  • Site-wide: 1,413
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  • Site-wide: 4,125

An open resource of structural variation for medical and population genetics

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  • Site-wide: 817
  • In genomics: 56
• Year to date:
  • Site-wide: 10,715
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  • Site-wide: 65,022

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

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  • Site-wide: 1,175
  • In genomics: 96
• Year to date:
  • Site-wide: 3,661
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  • Site-wide: 31,952

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

• Downloaded 3,094 times
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  • Site-wide: 4,631
  • In genomics: 487
• Year to date:
  • Site-wide: 9,461
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  • Site-wide: 29,459

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

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  • Site-wide: 5,240
  • In genetics: 217
• Year to date:
  • Site-wide: 4,408
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  • Site-wide: 5,296

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

• Downloaded 2,108 times
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  • Site-wide: 8,095
  • In genomics: 843
• Year to date:
  • Site-wide: 138,763
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  • Site-wide: None

The Polygenic and Monogenic Basis of Blood Traits and Diseases

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  • Site-wide: 8,223
  • In genetic and genomic medicine: 35
• Year to date:
  • Site-wide: 32,414
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  • Site-wide: 105,439

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

• Downloaded 1,941 times
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  • Site-wide: 9,137
  • In bioinformatics: 1,051
• Year to date:
  • Site-wide: 2,487
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  • Site-wide: 8,375

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

• Downloaded 1,881 times
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  • Site-wide: 9,587
  • In genetics: 417
• Year to date:
  • Site-wide: 100,017
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  • Site-wide: 61,447

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

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  • Site-wide: 10,713
  • In genetics: 475
• Year to date:
  • Site-wide: 93,551
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  • Site-wide: 73,384

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

• Downloaded 1,486 times
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  • Site-wide: 13,527
  • In genetics: 619
• Year to date:
  • Site-wide: 93,721
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  • Site-wide: None

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

• Downloaded 1,443 times
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  • Site-wide: 14,155
  • In genetics: 650
• Year to date:
  • Site-wide: 6,966
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  • Site-wide: 109,921

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

• Downloaded 1,440 times
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  • Site-wide: 14,198
  • In genetic and genomic medicine: 60
• Year to date:
  • Site-wide: 6,285
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  • Site-wide: 13,265

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

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  • Site-wide: 14,343
  • In genetics: 660
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  • Site-wide: 21,606
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  • Site-wide: 7,675

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

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  • Site-wide: 18,583
  • In genetics: 865
• Year to date:
  • Site-wide: 100,286
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  • Site-wide: None

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

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  • Site-wide: 20,941
  • In developmental biology: 351
• Year to date:
  • Site-wide: 27,674
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  • Site-wide: 85,890

The Trans-Ancestral Genomic Architecture of Glycaemic Traits

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  • Site-wide: 22,003
  • In genetics: 1,004
• Year to date:
  • Site-wide: 10,170
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  • Site-wide: 44,082

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

• Downloaded 1,072 times
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  • Site-wide: 22,044
  • In genomics: 2,096
• Year to date:
  • Site-wide: 113,093
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  • Site-wide: 72,795

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

• Downloaded 916 times
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  • Site-wide: 27,655
  • In genetic and genomic medicine: 107
• Year to date:
  • Site-wide: 29,881
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  • Site-wide: 28,760

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

• Downloaded 858 times
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  • Site-wide: 30,364
  • In genetics: 1,403
• Year to date:
  • Site-wide: 118,533
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  • Site-wide: 79,847

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

• Downloaded 786 times
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  • Site-wide: 34,356
  • In genomics: 2,920
• Year to date:
  • Site-wide: 83,021
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  • 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

• Downloaded 724 times
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  • 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

• Downloaded 689 times
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  • Site-wide: 41,061
  • In hematology: 33
• Year to date:
  • Site-wide: 8,324
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  • 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

• 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

• Downloaded 625 times
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  • Site-wide: 46,603
  • In genetics: 2,093
• Year to date:
  • Site-wide: 127,601
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  • 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

• Downloaded 586 times
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  • 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

• Downloaded 518 times
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  • Site-wide: 58,728
  • In genomics: 4,325
• Year to date:
  • Site-wide: 141,409
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  • Site-wide: None

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

• Downloaded 491 times
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  • Site-wide: 62,330
  • In genetics: 2,760
• Year to date:
  • Site-wide: 137,605
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  • Site-wide: None

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

• Downloaded 490 times
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  • 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

• Downloaded 485 times
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  • 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

• Downloaded 483 times
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  • Site-wide: 63,431
  • In genetics: 2,806
• Year to date:
  • Site-wide: 146,870
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  • 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

• Downloaded 451 times
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  • 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

• Downloaded 447 times
• Download rankings, all-time:
  • Site-wide: 68,971
  • In epidemiology: 3,004
• Year to date:
  • Site-wide: 141,477
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  • 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.

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

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

• 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

• Downloaded 324 times
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  • Site-wide: 92,260
  • In epidemiology: 3,870
• Year to date:
  • Site-wide: 103,266
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  • Site-wide: None

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

• Downloaded 289 times
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  • 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

• Downloaded 281 times
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  • Site-wide: 101,944
  • In genetic and genomic medicine: 478
• Year to date:
  • Site-wide: 19,390
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  • Site-wide: None

Joint analysis reveals shared autoimmune disease associations and identifies common mechanisms

• Downloaded 245 times
• Download rankings, all-time:
  • Site-wide: 110,665
  • In genetic and genomic medicine: 553
• Year to date:
  • Site-wide: 23,283
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  • Site-wide: 105,760

Genome-wide association study of cryptosporidiosis in infants implicates PRKCA

• Downloaded 243 times
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  • Site-wide: 111,211
  • In genetics: 4,691
• Year to date:
  • Site-wide: 150,636
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  • 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

• 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

• Downloaded 221 times
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  • Site-wide: 116,621
  • In genetic and genomic medicine: 607
• Year to date:
  • Site-wide: 26,667
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  • Site-wide: 50,582

Monogenic and Polygenic Contributions to QTc Prolongation in the Population

• Downloaded 220 times
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  • Site-wide: 116,955
  • In genetic and genomic medicine: 610
• Year to date:
  • Site-wide: 26,821
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  • 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

• Downloaded 107 times
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  • Site-wide: 142,535
  • In genetic and genomic medicine: 800
• Year to date:
  • Site-wide: 59,386
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  • Site-wide: None

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

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  • Site-wide: 143,314
  • In bioinformatics: 11,067
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  • Site-wide: 61,737
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  • Site-wide: 12,855

Protein prediction for trait mapping in diverse populations

• Downloaded 9 times
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  • Site-wide: 152,640
  • In genomics: 7,623
• Year to date:
  • Site-wide: 152,519
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  • Site-wide: 8,636