Author: Hilary K Finucane

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Preprints

An Atlas of Genetic Correlations across Human Diseases and Traits

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  • Site-wide: 776
  • In genomics: 32
• Year to date:
  • Site-wide: 146,436
• Since beginning of last month:
  • Site-wide: 5,990

Genome-wide association analyses identify 44 risk variants and refine the genetic architecture of major depression

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  • Site-wide: 1,393
  • In genetics: 27
• Year to date:
  • Site-wide: 19,327
• Since beginning of last month:
  • Site-wide: 21,453

Partitioning heritability by functional category using GWAS summary statistics

• Downloaded 9,002 times
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  • Site-wide: 1,578
  • In genetics: 34
• Year to date:
  • Site-wide: 28,092
• Since beginning of last month:
  • Site-wide: 5,988

Leveraging polygenic enrichments of gene features to predict genes underlying complex traits and diseases

• Downloaded 7,728 times
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  • Site-wide: 1,925
  • In genetic and genomic medicine: 11
• Year to date:
  • Site-wide: 456
• Since beginning of last month:
  • Site-wide: 1,070

LD Hub: a centralized database and web interface to perform LD score regression that maximizes the potential of summary level GWAS data for SNP heritability and genetic correlation analysis

• Downloaded 7,602 times
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  • Site-wide: 1,967
  • In bioinformatics: 107
• Year to date:
  • Site-wide: 27,663
• Since beginning of last month:
  • Site-wide: 152,219

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

• Downloaded 4,512 times
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  • Site-wide: 4,010
  • In genetics: 112
• Year to date:
  • Site-wide: 145,359
• Since beginning of last month:
  • Site-wide: 147,901

Genome-wide maps of enhancer regulation connect risk variants to disease genes

• Downloaded 3,555 times
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  • Site-wide: 5,692
  • In genetics: 187
• Year to date:
  • Site-wide: 17,401
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  • Site-wide: 27,087

Interrogation of human hematopoiesis at single-cell and single-variant resolution

• Downloaded 3,397 times
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  • Site-wide: 6,095
  • In genetics: 201
• Year to date:
  • Site-wide: 85,812
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  • Site-wide: 148,099

Contrasting regional architectures of schizophrenia and other complex diseases using fast variance components analysis

• Downloaded 3,375 times
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  • Site-wide: 6,166
  • In genetics: 205
• Year to date:
  • Site-wide: 23,555
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  • Site-wide: 141,986

Discovery and systematic characterization of risk variants and genes for coronary artery disease in over a million participants.

• Downloaded 3,367 times
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  • Site-wide: 6,190
  • In genetic and genomic medicine: 34
• Year to date:
  • Site-wide: 7,827
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  • Site-wide: 10,179

Estimating heritability and its enrichment in tissue-specific gene sets in admixed populations

• Downloaded 3,127 times
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  • Site-wide: 6,888
  • In genetics: 249
• Year to date:
  • Site-wide: 83,448
• Since beginning of last month:
  • Site-wide: 117,451

HCR-FlowFISH: A flexible CRISPR screening method to identify cis-regulatory elements and their target genes

• Downloaded 3,095 times
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  • Site-wide: 6,985
  • In genomics: 654
• Year to date:
  • Site-wide: 7,729
• Since beginning of last month:
  • Site-wide: 14,993

Linkage disequilibrium dependent architecture of human complex traits reveals action of negative selection

• Downloaded 3,040 times
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  • Site-wide: 7,154
  • In genetics: 260
• Year to date:
  • Site-wide: 79,542
• Since beginning of last month:
  • Site-wide: 198,267

Functionally-informed fine-mapping and polygenic localization of complex trait heritability

• Downloaded 2,965 times
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  • Site-wide: 7,428
  • In genetics: 265
• Year to date:
  • Site-wide: 84,617
• Since beginning of last month:
  • Site-wide: 45,969

Detecting genome-wide directional effects of transcription factor binding on polygenic disease risk

• Downloaded 2,761 times
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  • Site-wide: 8,237
  • In genetics: 308
• Year to date:
  • Site-wide: 183,852
• Since beginning of last month:
  • Site-wide: 174,996

Insights from complex trait fine-mapping across diverse populations

• Downloaded 2,734 times
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  • Site-wide: 8,370
  • In genetic and genomic medicine: 49
• Year to date:
  • Site-wide: 4,344
• Since beginning of last month:
  • Site-wide: 4,962

Transcriptome-wide association study of schizophrenia and chromatin activity yields mechanistic disease insights

• Downloaded 2,689 times
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  • Site-wide: 8,582
  • In genomics: 805
• Year to date:
  • Site-wide: 87,623
• Since beginning of last month:
  • Site-wide: 205,113

Efficient Bayesian mixed model analysis increases association power in large cohorts

• Downloaded 2,453 times
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  • Site-wide: 9,851
  • In genetics: 375
• Year to date:
  • Site-wide: 144,176
• Since beginning of last month:
  • Site-wide: 60,293

Estimating the proportion of disease heritability mediated by gene expression levels

• Downloaded 2,434 times
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  • Site-wide: 9,961
  • In genetics: 381
• Year to date:
  • Site-wide: 84,345
• Since beginning of last month:
  • Site-wide: 60,034

Reference-based phasing using the Haplotype Reference Consortium panel

• Downloaded 2,089 times
• Download rankings, all-time:
  • Site-wide: 12,575
  • In genetics: 470
• Year to date:
  • Site-wide: 23,240
• Since beginning of last month:
  • Site-wide: 75,697

Reconciling S-LDSC and LDAK models and functional enrichment estimates

• Downloaded 2,081 times
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  • Site-wide: 12,645
  • In genetics: 472
• Year to date:
  • Site-wide: 60,295
• Since beginning of last month:
  • Site-wide: 60,267

Tractor: A framework allowing for improved inclusion of admixed individuals in large-scale association studies.

• Downloaded 1,914 times
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  • Site-wide: 14,363
  • In genomics: 1,296
• Year to date:
  • Site-wide: 39,284
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  • Site-wide: 122,075

Genome-wide association studies suggest limited immune gene enrichment in schizophrenia compared to five autoimmune diseases

• Downloaded 1,755 times
• Download rankings, all-time:
  • Site-wide: 16,423
  • In genetics: 660
• Year to date:
  • Site-wide: 45,375
• Since beginning of last month:
  • Site-wide: 115,971

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

• Downloaded 1,604 times
• Download rankings, all-time:
  • Site-wide: 18,925
  • In genetics: 766
• Year to date:
  • Site-wide: 112,551
• Since beginning of last month:
  • Site-wide: 51,792

Leveraging supervised learning for functionally-informed fine-mapping of cis-eQTLs identifies an additional 20,913 putative causal eQTLs

• Downloaded 1,378 times
• Download rankings, all-time:
  • Site-wide: 24,135
  • In genomics: 2,074
• Year to date:
  • Site-wide: 128,453
• Since beginning of last month:
  • Site-wide: 66,189

Meta-analysis fine-mapping is often miscalibrated at single-variant resolution

• Downloaded 1,363 times
• Download rankings, all-time:
  • Site-wide: 24,556
  • In genetic and genomic medicine: 151
• Year to date:
  • Site-wide: 13,649
• Since beginning of last month:
  • Site-wide: 11,868

Mapping the convergence of genes for coronary artery disease onto endothelial cell programs

• Downloaded 1,260 times
• Download rankings, all-time:
  • Site-wide: 27,871
  • In genomics: 2,893
• Year to date:
  • Site-wide: 549
• Since beginning of last month:
  • Site-wide: 1,623

Low-frequency variant functional architectures reveal strength of negative selection across coding and non-coding annotations

• Downloaded 1,148 times
• Download rankings, all-time:
  • Site-wide: 32,250
  • In genetics: 1,284
• Year to date:
  • Site-wide: 145,962
• Since beginning of last month:
  • Site-wide: 148,256

Correcting subtle stratification in summary association statistics

• Downloaded 1,139 times
• Download rankings, all-time:
  • Site-wide: 32,643
  • In genetics: 1,297
• Year to date:
  • Site-wide: 144,573
• Since beginning of last month:
  • Site-wide: 147,495

Genes with high network connectivity are enriched for disease heritability

• Downloaded 1,022 times
• Download rankings, all-time:
  • Site-wide: 38,530
  • In genetics: 1,516
• Year to date:
  • Site-wide: 161,995
• Since beginning of last month:
  • Site-wide: 200,896

Functional partitioning of local and distal gene expression regulation in multiple human tissues

• Downloaded 985 times
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  • Site-wide: 40,826
  • In genomics: 3,121
• Year to date:
  • Site-wide: 163,786
• Since beginning of last month:
  • Site-wide: 148,827

Quantification of frequency-dependent genetic architectures and action of negative selection in 25 UK Biobank traits

• Downloaded 968 times
• Download rankings, all-time:
  • Site-wide: 41,962
  • In genetics: 1,664
• Year to date:
  • Site-wide: 116,686
• Since beginning of last month:
  • Site-wide: 143,178

Significance testing for small annotations in stratified LD-Score regression

• Downloaded 748 times
• Download rankings, all-time:
  • Site-wide: 61,915
  • In genetic and genomic medicine: 406
• Year to date:
  • Site-wide: 18,222
• Since beginning of last month:
  • Site-wide: 24,875

Shared heritability and functional enrichment across six solid cancers

• Downloaded 649 times
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  • Site-wide: 75,530
  • In genomics: 5,012
• Year to date:
  • Site-wide: 161,516
• Since beginning of last month:
  • Site-wide: 145,355

Improving fine-mapping by modeling infinitesimal effects

• Downloaded 598 times
• Download rankings, all-time:
  • Site-wide: 84,065
  • In bioinformatics: 8,216
• Year to date:
  • Site-wide: 3,535
• Since beginning of last month:
  • Site-wide: 1,915