Author: Nicole Soranzo

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Preprints

A reference panel of 64,976 haplotypes for genotype imputation

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  • Site-wide: 1,960
  • In genetics: 79
• Year to date:
  • Site-wide: 81,235
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  • Site-wide: 53,989

Consequences Of Natural Perturbations In The Human Plasma Proteome

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  • Site-wide: 2,174
  • In genomics: 259
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  • Site-wide: None
• Since beginning of last month:
  • Site-wide: 114,187

A map of transcriptional heterogeneity and regulatory variation in human microglia

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  • Site-wide: 3,628
  • In genomics: 437
• Year to date:
  • Site-wide: 3,366
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  • Site-wide: 7,775

GARFIELD - GWAS Analysis of Regulatory or Functional Information Enrichment with LD correction

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  • Site-wide: 4,662
  • In genomics: 563
• Year to date:
  • Site-wide: 43,447
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  • Site-wide: 44,956

Genome-wide association study identifies 48 common genetic variants associated with handedness

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  • Site-wide: 4,759
  • In genetics: 233
• Year to date:
  • Site-wide: 10,106
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  • Site-wide: 14,344

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

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  • Site-wide: 6,114
  • In genetics: 309
• Year to date:
  • Site-wide: 5,464
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  • Site-wide: 10,947

The Polygenic and Monogenic Basis of Blood Traits and Diseases

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  • Site-wide: 7,033
  • In genetic and genomic medicine: 17
• Year to date:
  • Site-wide: 47,124
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  • Site-wide: 13,164

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

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  • Site-wide: 7,397
  • In genetics: 367
• Year to date:
  • Site-wide: 44,516
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  • Site-wide: 93,223

Identification of novel rare sequence variation underlying heritable pulmonary arterial hypertension

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  • Site-wide: 10,187
  • In genetics: 516
• Year to date:
  • Site-wide: 37,575
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  • Site-wide: 69,313

Integrative analysis of the plasma proteome and polygenic risk of cardiometabolic diseases

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  • Site-wide: 10,468
  • In genetics: 533
• Year to date:
  • Site-wide: 19,106
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  • Site-wide: 20,349

Immune disease variants modulate gene expression in regulatory CD4+ T cells and inform drug targets

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  • Site-wide: 10,538
  • In genetics: 538
• Year to date:
  • Site-wide: 79,528
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  • Site-wide: 30,211

Comparative analysis of neutrophil and monocyte epigenomes

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  • Site-wide: 10,864
  • In genomics: 1,235
• Year to date:
  • Site-wide: 24,858
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  • Site-wide: 25,917

Learning polygenic scores for human blood cell traits

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  • Site-wide: 11,502
  • In genetics: 594
• Year to date:
  • Site-wide: 71,361
• Since beginning of last month:
  • Site-wide: 21,095

Genetic associations at regulatory phenotypes improve fine-mapping of causal variants for twelve immune-mediated diseases

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  • Site-wide: 14,471
  • In genomics: 1,569
• Year to date:
  • Site-wide: 6,387
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  • Site-wide: 25,599

Narrow-sense heritability estimation of complex traits using identity-by-descent information.

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  • Site-wide: 15,696
  • In genetics: 816
• Year to date:
  • Site-wide: 45,352
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  • Site-wide: 63,754

Genome-wide Analysis of Differential Transcriptional and Epigenetic Variability Across Human Immune Cell Types

• Downloaded 1,081 times
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  • Site-wide: 16,390
  • In genomics: 1,748
• Year to date:
  • Site-wide: 79,362
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  • Site-wide: 83,996

Personalized and graph genomes reveal missing signal in epigenomic data

• Downloaded 979 times
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  • Site-wide: 18,986
  • In bioinformatics: 2,364
• Year to date:
  • Site-wide: 74,976
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  • Site-wide: 99,080

Purging of deleterious variants due to drift and founder effect in Italian populations with extended autozygosity

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  • Site-wide: 19,497
  • In evolutionary biology: 898
• Year to date:
  • Site-wide: 70,512
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  • Site-wide: 53,941

Identifying tissues implicated in Anorexia Nervosa using Transcriptomic Imputation

• Downloaded 816 times
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  • Site-wide: 24,690
  • In genetics: 1,251
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  • Site-wide: 25,518
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  • Site-wide: 39,483

Variation in PU.1 binding and chromatin looping at neutrophil enhancers influences autoimmune disease susceptibility

• Downloaded 753 times
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  • Site-wide: 27,586
  • In genetics: 1,399
• Year to date:
  • Site-wide: 42,717
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  • Site-wide: 58,206

Genetic Analyses of Blood Cell Structure for Biological and Pharmacological Inference

• Downloaded 669 times
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  • Site-wide: 32,470
  • In genetics: 1,631
• Year to date:
  • Site-wide: 15,455
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  • Site-wide: 20,479

Network-based metabolite ratios for an improved functional characterization of genome-wide association study results

• Downloaded 627 times
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  • Site-wide: 35,367
  • In genetics: 1,769
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  • Site-wide: None
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  • Site-wide: 109,506

The influence of rare variants in circulating metabolic biomarkers

• Downloaded 309 times
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  • Site-wide: 74,614
  • In genetics: 3,523
• Year to date:
  • Site-wide: 88,969
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  • Site-wide: 96,533

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

• Downloaded 238 times
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  • Site-wide: 88,817
  • In hematology: 50
• Year to date:
  • Site-wide: 3,060
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  • Site-wide: 2,253

Effects of adiposity on the human plasma proteome: Observational and Mendelian randomization estimates

• Downloaded 135 times
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  • Site-wide: 109,421
  • In epidemiology: 4,397
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