Author: Francesco Cucca

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Preprints

Population history of the Sardinian people inferred from whole-genome sequencing

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  • Site-wide: 2,246
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  • Site-wide: 22,203
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  • Site-wide: 17,616

A reference panel of 64,976 haplotypes for genotype imputation

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  • Site-wide: 2,262
  • In genetics: 82
• Year to date:
  • Site-wide: 81,055
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  • Site-wide: 101,753

Genetic analysis of over one million people identifies 535 novel loci for blood pressure.

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  • Site-wide: 4,004
  • In genetics: 168
• Year to date:
  • Site-wide: 55,879
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  • Site-wide: 75,377

Population history from the Neolithic to present on the Mediterranean island of Sardinia: An ancient DNA perspective

• Downloaded 2,675 times
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  • Site-wide: 4,916
  • In genetics: 221
• Year to date:
  • Site-wide: 31,482
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  • Site-wide: 27,051

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

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  • Site-wide: 9,507
  • In genetics: 453
• Year to date:
  • Site-wide: 78,667
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  • Site-wide: 85,473

Genomic analyses for age at menarche identify 389 independent signals and indicate BMI-independent effects of puberty timing on cancer susceptibility

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  • Site-wide: 15,338
  • In genomics: 1,582
• Year to date:
  • Site-wide: 91,319
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  • Site-wide: 125,117

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

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  • Site-wide: 17,445
  • In genetics: 849
• Year to date:
  • Site-wide: 75,697
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  • Site-wide: 72,095

Tissue-Specific Alteration of Metabolic Pathways Influences Glycemic Regulation

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  • Site-wide: 25,528
  • In genetics: 1,229
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  • Site-wide: 20,712
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  • Site-wide: 12,997

Sequencing and Imputation in GWAS: Cost-Effective Strategies to Increase Power and Genomic Coverage Across Diverse Populations

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  • Site-wide: 26,054
  • In genetics: 1,250
• Year to date:
  • Site-wide: 68,920
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  • Site-wide: 78,943

Genetic dysregulation of gene expression and splicing during a ten-year period of human aging

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  • Site-wide: 27,437
  • In genomics: 2,543
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  • Site-wide: 99,976
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  • Site-wide: 78,168

The Trans-Ancestral Genomic Architecture of Glycaemic Traits

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  • Site-wide: 29,312
  • In genetics: 1,418
• Year to date:
  • Site-wide: 15,154
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  • Site-wide: 12,517

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

• Downloaded 747 times
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  • Site-wide: 31,905
  • In genomics: 2,831
• Year to date:
  • Site-wide: 73,808
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  • Site-wide: 89,424

Multi-ancestry GWAS of the electrocardiographic PR interval identifies 210 loci underlying cardiac conduction

• Downloaded 613 times
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  • Site-wide: 41,449
  • In genetics: 1,957
• Year to date:
  • Site-wide: 79,465
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  • Site-wide: 74,054

Genetic insights into the biological mechanisms governing human ovarian ageing

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  • Site-wide: 43,827
  • In sexual and reproductive health: 19
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  • Site-wide: 2,523
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  • Site-wide: 8,602

Discovering patterns of pleiotropy in genome-wide association studies

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  • Site-wide: 44,104
  • In genetics: 2,067
• Year to date:
  • Site-wide: 105,710
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  • Site-wide: 78,145

Exome chip meta-analysis elucidates the genetic architecture of rare coding variants in smoking and drinking behavior

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  • Site-wide: 44,661
  • In genetics: 2,090
• Year to date:
  • Site-wide: 117,030
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  • Site-wide: 101,692

Genome-wide association meta-analysis of PR interval identifies 47 novel loci associated with atrial and atrioventricular electrical activity

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  • Site-wide: 45,421
  • In genetics: 2,132
• Year to date:
  • Site-wide: 94,200
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  • Site-wide: 86,400

Evidence of polygenic adaptation at height-associated loci in mainland Europeans and Sardinians

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  • Site-wide: 50,397
  • In genetics: 2,342
• Year to date:
  • Site-wide: 80,225
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  • Site-wide: 100,264

Analysis of overlapping genetic association in type 1 and type 2 diabetes

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  • Site-wide: 59,955
  • In genetics: 2,783
• Year to date:
  • Site-wide: 13,272
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  • Site-wide: 33,089

Meta-MultiSKAT: Multiple phenotype meta-analysis for region-based association test

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  • Site-wide: 73,701
  • In genetics: 3,371
• Year to date:
  • Site-wide: 122,085
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  • Site-wide: 123,220

Enhanced genetic analysis of type 1 diabetes by selecting variants on both effect size and significance, and by integration with autoimmune thyroid disease

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  • Site-wide: 112,432
  • In genetics: 4,876
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  • Site-wide: 13,656
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  • Site-wide: 15,725

A Sardinian founder mutation in GP1BB that impacts thrombocytopenia.

• Downloaded 130 times
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  • Site-wide: 122,438
  • In genetic and genomic medicine: 583
• Year to date:
  • Site-wide: 82,857
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  • Site-wide: 81,870