Author: Giulio Genovese

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Preprints

Exome sequencing identifies rare coding variants in 10 genes which confer substantial risk for schizophrenia

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  • Site-wide: 2,318
  • In genetic and genomic medicine: 10
• Year to date:
  • Site-wide: 961
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  • Site-wide: 933

Heritability enrichment of specifically expressed genes identifies disease-relevant tissues and cell types

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  • Site-wide: 3,083
  • In genetics: 97
• Year to date:
  • Site-wide: 87,600
• Since beginning of last month:
  • Site-wide: 126,425

Ultra-rare disruptive and damaging mutations influence educational attainment in the general population

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  • Site-wide: 7,506
  • In genetics: 320
• Year to date:
  • Site-wide: 118,519
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  • Site-wide: 112,655

A contribution of novel CNVs to schizophrenia from a genome-wide study of 41,321 subjects

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  • Site-wide: 10,628
  • In genetics: 459
• Year to date:
  • Site-wide: 77,904
• Since beginning of last month:
  • Site-wide: 105,185

Monogenic and polygenic inheritance become instruments for clonal selection

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  • Site-wide: 13,742
  • In genetics: 610
• Year to date:
  • Site-wide: 87,644
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  • Site-wide: 77,937

Integrated Bayesian analysis of rare exonic variants to identify risk genes for schizophrenia and neurodevelopmental disorders

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  • Site-wide: 14,335
  • In genomics: 1,425
• Year to date:
  • Site-wide: 107,390
• Since beginning of last month:
  • Site-wide: 134,882

Genomic dissection of bipolar disorder and schizophrenia including 28 subphenotypes

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  • Site-wide: 14,651
  • In genomics: 1,451
• Year to date:
  • Site-wide: 117,239
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  • Site-wide: 111,377

Genetic predisposition to mosaic Y chromosome loss in blood is associated with genomic instability in other tissues and susceptibility to non-haematological cancers

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  • Site-wide: 15,390
  • In genetics: 687
• Year to date:
  • Site-wide: 72,859
• Since beginning of last month:
  • Site-wide: 114,260

Hematopoietic mosaic chromosomal alterations and risk for infection among 767,891 individuals without blood cancer

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  • Site-wide: 17,971
  • In genetic and genomic medicine: 82
• Year to date:
  • Site-wide: 6,102
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  • Site-wide: 14,222

Large mosaic copy number variations confer autism risk

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  • Site-wide: 18,875
  • In genetic and genomic medicine: 84
• Year to date:
  • Site-wide: 26,089
• Since beginning of last month:
  • Site-wide: 65,808

Non-crossover gene conversions show strong GC bias and unexpected clustering in humans

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  • Site-wide: 20,377
  • In genetics: 914
• Year to date:
  • Site-wide: 127,801
• Since beginning of last month:
  • Site-wide: 150,057

Haplotype sharing provides insights into fine-scale population history and disease in Finland

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  • Site-wide: 21,173
  • In genetics: 943
• Year to date:
  • Site-wide: 99,212
• Since beginning of last month:
  • Site-wide: 136,257

The Genetic Landscape of Diamond-Blackfan Anemia

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  • Site-wide: 21,298
  • In genetics: 952
• Year to date:
  • Site-wide: 124,998
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  • Site-wide: 141,259

The weighting is the hardest part: on the behavior of the likelihood ratio test and score test under weight misspecification in rare variant association studies

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  • Site-wide: 22,760
  • In genetics: 1,012
• Year to date:
  • Site-wide: 109,617
• Since beginning of last month:
  • Site-wide: 126,005

Publicly available hiPSC lines with extreme polygenic risk scores for modeling schizophrenia

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  • Site-wide: 25,521
  • In genomics: 2,338
• Year to date:
  • Site-wide: 22,392
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  • Site-wide: 17,725

Schizophrenia risk conferred by protein-coding de novo mutations

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  • Site-wide: 31,488
  • In genetics: 1,402
• Year to date:
  • Site-wide: 107,336
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  • Site-wide: 121,464

Mosaic Mutations in Blood DNA Sequence Are Associated with Solid Tumor Cancers

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  • Site-wide: 34,595
  • In genetics: 1,540
• Year to date:
  • Site-wide: 159,664
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  • Site-wide: 155,513

Leveraging distant relatedness to quantify human mutation and gene conversion rates

• Downloaded 797 times
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  • Site-wide: 37,009
  • In genetics: 1,636
• Year to date:
  • Site-wide: 143,476
• Since beginning of last month:
  • Site-wide: 126,015

Insights into dispersed duplications and complex structural mutations from whole genome sequencing 706 families

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  • Site-wide: 57,766
  • In genomics: 4,253
• Year to date:
  • Site-wide: 65,565
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  • Site-wide: 55,416

Biological insights from the whole genome analysis of human embryonic stem cells

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  • Site-wide: 62,387
  • In genomics: 4,490
• Year to date:
  • Site-wide: 34,303
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  • Site-wide: 32,577

Genetic ancestry contributes to somatic mutations in lung cancers from admixed Latin American populations

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  • Site-wide: 70,319
  • In epidemiology: 3,108
• Year to date:
  • Site-wide: 54,045
• Since beginning of last month:
  • Site-wide: 122,368

The 22q11.2 region regulates presynaptic gene-products linked to schizophrenia

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  • Site-wide: 89,853
  • In neuroscience: 13,383
• Year to date:
  • Site-wide: 19,691
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  • Site-wide: 1,486

A Phenome-Wide Association Study of genes associated with COVID-19 severity reveals shared genetics with complex diseases in the Million Veteran Program

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  • Site-wide: 117,861
  • In genetic and genomic medicine: 650
• Year to date:
  • Site-wide: 32,575
• Since beginning of last month:
  • Site-wide: None

Genetic variant in SPDL1 reveals novel mechanism linking pulmonary fibrosis risk and cancer protection

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  • Site-wide: 121,748
  • In genetic and genomic medicine: 679
• Year to date:
  • Site-wide: 35,153
• Since beginning of last month:
  • Site-wide: 37,806