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: 2,639
  • In genetic and genomic medicine: 11
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  • Site-wide: 935
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  • Site-wide: 1,015

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

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  • Site-wide: 2,763
  • In genetics: 96
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  • Site-wide: 71,597
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  • Site-wide: 67,623

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

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  • Site-wide: 6,827
  • In genetics: 306
• Year to date:
  • Site-wide: 102,671
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  • Site-wide: 72,898

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

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  • Site-wide: 9,776
  • In genetics: 439
• Year to date:
  • Site-wide: 64,301
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  • Site-wide: 101,926

Monogenic and polygenic inheritance become instruments for clonal selection

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  • Site-wide: 12,718
  • In genetics: 586
• Year to date:
  • Site-wide: 78,744
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  • Site-wide: 41,604

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

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  • Site-wide: 13,151
  • In genomics: 1,366
• Year to date:
  • Site-wide: 93,094
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  • Site-wide: 94,691

Genomic dissection of bipolar disorder and schizophrenia including 28 subphenotypes

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  • Site-wide: 13,318
  • In genomics: 1,377
• Year to date:
  • Site-wide: 96,602
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  • Site-wide: 104,524

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: 14,088
  • In genetics: 657
• Year to date:
  • Site-wide: 56,519
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  • Site-wide: 87,262

Large mosaic copy number variations confer autism risk

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  • Site-wide: 18,308
  • In genetic and genomic medicine: 75
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  • Site-wide: 21,116
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  • Site-wide: 23,663

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

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  • Site-wide: 18,579
  • In genetics: 874
• Year to date:
  • Site-wide: 107,061
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  • Site-wide: 94,446

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

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  • Site-wide: 19,447
  • In genetics: 914
• Year to date:
  • Site-wide: 79,097
• Since beginning of last month:
  • Site-wide: 102,010

The Genetic Landscape of Diamond-Blackfan Anemia

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  • Site-wide: 19,560
  • In genetics: 921
• Year to date:
  • Site-wide: 110,835
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  • Site-wide: 113,012

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: 20,909
  • In genetics: 967
• Year to date:
  • Site-wide: 91,110
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  • Site-wide: 97,454

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

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  • Site-wide: 21,759
  • In genetic and genomic medicine: 83
• Year to date:
  • Site-wide: 6,118
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  • Site-wide: 8,381

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

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  • Site-wide: 26,469
  • In genomics: 2,439
• Year to date:
  • Site-wide: 21,106
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  • Site-wide: 28,455

Schizophrenia risk conferred by protein-coding de novo mutations

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  • Site-wide: 29,048
  • In genetics: 1,348
• Year to date:
  • Site-wide: 89,449
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  • Site-wide: 79,162

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

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  • Site-wide: 31,114
  • In genetics: 1,444
• Year to date:
  • Site-wide: 145,963
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  • Site-wide: 139,235

Leveraging distant relatedness to quantify human mutation and gene conversion rates

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  • Site-wide: 33,914
  • In genetics: 1,565
• Year to date:
  • Site-wide: 132,050
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  • Site-wide: 101,825

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

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  • Site-wide: 57,386
  • In genomics: 4,274
• Year to date:
  • Site-wide: 63,821
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  • Site-wide: 48,093

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

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  • Site-wide: 65,948
  • In genomics: 4,675
• Year to date:
  • Site-wide: 32,263
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  • Site-wide: 25,404

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

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  • Site-wide: 68,330
  • In epidemiology: 2,965
• Year to date:
  • Site-wide: 44,367
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  • Site-wide: 101,428

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: 108,893
  • In genetic and genomic medicine: 527
• Year to date:
  • Site-wide: 20,881
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  • Site-wide: 9,855

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

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  • Site-wide: 123,299
  • In genetic and genomic medicine: 641
• Year to date:
  • Site-wide: 29,648
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  • Site-wide: 20,892