Author: Giulio Genovese

Downloads per author, site-wide

Preprints

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

• Downloaded 4,141 times
• Download rankings, all-time:
  • Site-wide: 1,142 out of 94,912
  • In genetics: 86 out of 4,824
• Year to date:
  • Site-wide: 13,688 out of 94,912
• Since beginning of last month:
  • Site-wide: 15,006 out of 94,912

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

• Downloaded 2,255 times
• Download rankings, all-time:
  • Site-wide: 3,183 out of 94,912
  • In genetics: 240 out of 4,824
• Year to date:
  • Site-wide: 79,810 out of 94,912
• Since beginning of last month:
  • Site-wide: 68,970 out of 94,912

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

• Downloaded 1,692 times
• Download rankings, all-time:
  • Site-wide: 5,118 out of 94,912
  • In genetics: 371 out of 4,824
• Year to date:
  • Site-wide: 66,732 out of 94,912
• Since beginning of last month:
  • Site-wide: 61,113 out of 94,912

Genomic dissection of bipolar disorder and schizophrenia including 28 subphenotypes

• Downloaded 1,398 times
• Download rankings, all-time:
  • Site-wide: 7,048 out of 94,912
  • In genomics: 1,097 out of 5,955
• Year to date:
  • Site-wide: 59,888 out of 94,912
• Since beginning of last month:
  • Site-wide: 44,743 out of 94,912

Monogenic and polygenic inheritance become instruments for clonal selection

• Downloaded 1,384 times
• Download rankings, all-time:
  • Site-wide: 7,158 out of 94,912
  • In genetics: 506 out of 4,824
• Year to date:
  • Site-wide: 7,203 out of 94,912
• Since beginning of last month:
  • Site-wide: 14,746 out of 94,912

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

• Downloaded 1,383 times
• Download rankings, all-time:
  • Site-wide: 7,171 out of 94,912
  • In genomics: 1,108 out of 5,955
• Year to date:
  • Site-wide: 38,646 out of 94,912
• Since beginning of last month:
  • Site-wide: 30,663 out of 94,912

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

• Downloaded 1,265 times
• Download rankings, all-time:
  • Site-wide: 8,347 out of 94,912
  • In genetics: 576 out of 4,824
• Year to date:
  • Site-wide: 31,445 out of 94,912
• Since beginning of last month:
  • Site-wide: 48,441 out of 94,912

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

• Downloaded 1,102 times
• Download rankings, all-time:
  • Site-wide: 10,493 out of 94,912
  • In genetics: 700 out of 4,824
• Year to date:
  • Site-wide: 57,231 out of 94,912
• Since beginning of last month:
  • Site-wide: 41,400 out of 94,912

The Genetic Landscape of Diamond-Blackfan Anemia

• Downloaded 1,066 times
• Download rankings, all-time:
  • Site-wide: 11,085 out of 94,912
  • In genetics: 741 out of 4,824
• Year to date:
  • Site-wide: 48,667 out of 94,912
• Since beginning of last month:
  • Site-wide: 47,751 out of 94,912

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

• Downloaded 1,039 times
• Download rankings, all-time:
  • Site-wide: 11,579 out of 94,912
  • In genetics: 775 out of 4,824
• Year to date:
  • Site-wide: 62,309 out of 94,912
• Since beginning of last month:
  • Site-wide: 50,951 out of 94,912

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

• Downloaded 988 times
• Download rankings, all-time:
  • Site-wide: 12,508 out of 94,912
  • In genetics: 827 out of 4,824
• Year to date:
  • Site-wide: 59,826 out of 94,912
• Since beginning of last month:
  • Site-wide: 73,511 out of 94,912

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

• Downloaded 784 times
• Download rankings, all-time:
  • Site-wide: 17,965 out of 94,912
  • In genetics: 1,139 out of 4,824
• Year to date:
  • Site-wide: 85,542 out of 94,912
• Since beginning of last month:
  • Site-wide: 86,160 out of 94,912

Schizophrenia risk conferred by protein-coding de novo mutations

• Downloaded 775 times
• Download rankings, all-time:
  • Site-wide: 18,297 out of 94,912
  • In genetics: 1,154 out of 4,824
• Year to date:
  • Site-wide: 34,571 out of 94,912
• Since beginning of last month:
  • Site-wide: 48,319 out of 94,912

Leveraging distant relatedness to quantify human mutation and gene conversion rates

• Downloaded 734 times
• Download rankings, all-time:
  • Site-wide: 19,792 out of 94,912
  • In genetics: 1,240 out of 4,824
• Year to date:
  • Site-wide: 82,355 out of 94,912
• Since beginning of last month:
  • Site-wide: 69,126 out of 94,912

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

• Downloaded 490 times
• Download rankings, all-time:
  • Site-wide: 34,223 out of 94,912
  • In genomics: 3,338 out of 5,955
• Year to date:
  • Site-wide: 5,593 out of 94,912
• Since beginning of last month:
  • Site-wide: 629 out of 94,912

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

• Downloaded 282 times
• Download rankings, all-time:
  • Site-wide: 59,175 out of 94,912
  • In genomics: 4,669 out of 5,955
• Year to date:
  • Site-wide: 13,085 out of 94,912
• Since beginning of last month:
  • Site-wide: 1,440 out of 94,912