Author: Nicole Soranzo

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Preprints

A reference panel of 64,976 haplotypes for genotype imputation

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  • Site-wide: 2,260
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  • Site-wide: 81,660
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  • Site-wide: 104,328

Consequences Of Natural Perturbations In The Human Plasma Proteome

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  • In genomics: 277
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  • Site-wide: 102,560

A map of transcriptional heterogeneity and regulatory variation in human microglia

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  • Site-wide: 3,610
  • In genomics: 406
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  • Site-wide: 4,619
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Genome-wide association study identifies 48 common genetic variants associated with handedness

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  • Site-wide: 5,192
  • In genetics: 237
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  • Site-wide: 29,457

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

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  • Site-wide: 5,314
  • In genomics: 596
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  • Site-wide: 79,099
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Trans-ethnic and ancestry-specific blood-cell genetics in 746,667 individuals from 5 global populations

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  • Site-wide: 5,729
  • In genetics: 267
• Year to date:
  • Site-wide: 5,146
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  • Site-wide: 5,487

The Polygenic and Monogenic Basis of Blood Traits and Diseases

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  • Site-wide: 7,428
  • In genetic and genomic medicine: 25
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Refining The Accuracy Of Validated Target Identification Through Coding Variant Fine-Mapping In Type 2 Diabetes

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  • Site-wide: 8,446
  • In genetics: 396
• Year to date:
  • Site-wide: 90,476
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  • Site-wide: 94,685

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

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  • Site-wide: 8,758
  • In genetics: 409
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  • Site-wide: 4,856
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  • Site-wide: 3,186

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

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  • Site-wide: 11,203
  • In genetics: 536
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  • Site-wide: 33,163
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  • Site-wide: 29,728

Comparative analysis of neutrophil and monocyte epigenomes

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  • Site-wide: 11,336
  • In genomics: 1,227
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  • Site-wide: 25,661
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  • Site-wide: 20,625

Identification of novel rare sequence variation underlying heritable pulmonary arterial hypertension

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  • Site-wide: 11,366
  • In genetics: 544
• Year to date:
  • Site-wide: 68,127
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  • Site-wide: 63,360

Learning polygenic scores for human blood cell traits

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  • Site-wide: 11,567
  • In genetics: 559
• Year to date:
  • Site-wide: 20,997
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  • Site-wide: 23,139

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

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  • Site-wide: 15,417
  • In genomics: 1,590
• Year to date:
  • Site-wide: 28,216
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  • Site-wide: 44,446

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

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  • Site-wide: 17,420
  • In genetics: 849
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  • Site-wide: 76,167
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  • Site-wide: 71,182

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

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  • Site-wide: 18,449
  • In genomics: 1,869
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  • Site-wide: 111,673
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  • Site-wide: 114,341

Personalized and graph genomes reveal missing signal in epigenomic data

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  • Site-wide: 21,248
  • In bioinformatics: 2,510
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  • Site-wide: 106,782
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  • Site-wide: 96,862

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

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  • Site-wide: 21,270
  • In evolutionary biology: 936
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  • Site-wide: 94,671

Identifying tissues implicated in Anorexia Nervosa using Transcriptomic Imputation

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  • Site-wide: 27,123
  • In genetics: 1,310
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  • Site-wide: 73,494
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  • Site-wide: 68,479

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

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  • Site-wide: 28,527
  • In genetics: 1,381
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  • Site-wide: 47,377

Genetic Analyses of Blood Cell Structure for Biological and Pharmacological Inference

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  • Site-wide: 29,661
  • In genetics: 1,442
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  • Site-wide: 19,246
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  • Site-wide: 16,730

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

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  • Site-wide: 38,005
  • In genetics: 1,804
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  • Site-wide: 106,050
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  • Site-wide: 124,486

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

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  • Site-wide: 50,808
  • In hematology: 33
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  • Site-wide: 5,520
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The influence of rare variants in circulating metabolic biomarkers

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  • Site-wide: 81,679
  • In genetics: 3,706
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  • Site-wide: 123,996
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  • Site-wide: 106,818

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

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  • Site-wide: 97,490
  • In epidemiology: 3,994
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  • Site-wide: 49,970