Author: Hilary K Finucane

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Preprints

An Atlas of Genetic Correlations across Human Diseases and Traits

• Downloaded 14,848 times
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  • Site-wide: 645
  • In genomics: 32
• Year to date:
  • Site-wide: 14,037
• Since beginning of last month:
  • Site-wide: 20,237

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

• Downloaded 9,553 times
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  • Site-wide: 1,146
  • In genetics: 26
• Year to date:
  • Site-wide: 44,979
• Since beginning of last month:
  • Site-wide: 36,819

Partitioning heritability by functional category using GWAS summary statistics

• Downloaded 8,302 times
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  • Site-wide: 1,365
  • In genetics: 33
• Year to date:
  • Site-wide: 12,173
• Since beginning of last month:
  • Site-wide: 12,488

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 7,442 times
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  • Site-wide: 1,568
  • In bioinformatics: 92
• Year to date:
  • Site-wide: 45,687
• Since beginning of last month:
  • Site-wide: 130,827

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

• Downloaded 4,450 times
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  • Site-wide: 3,147
  • In genetic and genomic medicine: 14
• Year to date:
  • Site-wide: 1,338
• Since beginning of last month:
  • Site-wide: 682

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

• Downloaded 4,410 times
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  • Site-wide: 3,181
  • In genetics: 99
• Year to date:
  • Site-wide: 99,572
• Since beginning of last month:
  • Site-wide: 134,526

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

• Downloaded 3,297 times
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  • Site-wide: 4,789
  • In genetics: 178
• Year to date:
  • Site-wide: 77,438
• Since beginning of last month:
  • Site-wide: 124,315

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

• Downloaded 3,291 times
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  • Site-wide: 4,806
  • In genetics: 179
• Year to date:
  • Site-wide: 75,163
• Since beginning of last month:
  • Site-wide: 62,929

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

• Downloaded 3,289 times
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  • Site-wide: 4,810
  • In genetics: 180
• Year to date:
  • Site-wide: 3,828
• Since beginning of last month:
  • Site-wide: 40,902

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

• Downloaded 2,947 times
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  • Site-wide: 5,641
  • In genetics: 225
• Year to date:
  • Site-wide: 9,862
• Since beginning of last month:
  • Site-wide: 26,690

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

• Downloaded 2,925 times
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  • Site-wide: 5,706
  • In genetics: 228
• Year to date:
  • Site-wide: 72,951
• Since beginning of last month:
  • Site-wide: 54,028

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

• Downloaded 2,773 times
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  • Site-wide: 6,152
  • In genetics: 250
• Year to date:
  • Site-wide: 11,616
• Since beginning of last month:
  • Site-wide: 38,740

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

• Downloaded 2,673 times
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  • Site-wide: 6,487
  • In genetics: 261
• Year to date:
  • Site-wide: 75,850
• Since beginning of last month:
  • Site-wide: 73,004

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

• Downloaded 2,630 times
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  • Site-wide: 6,627
  • In genomics: 669
• Year to date:
  • Site-wide: 136,189
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  • Site-wide: 135,697

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

• Downloaded 2,594 times
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  • Site-wide: 6,785
  • In genomics: 687
• Year to date:
  • Site-wide: 5,941
• Since beginning of last month:
  • Site-wide: 12,323

Efficient Bayesian mixed model analysis increases association power in large cohorts

• Downloaded 2,331 times
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  • Site-wide: 7,944
  • In genetics: 336
• Year to date:
  • Site-wide: 122,711
• Since beginning of last month:
  • Site-wide: 140,496

Estimating the proportion of disease heritability mediated by gene expression levels

• Downloaded 2,321 times
• Download rankings, all-time:
  • Site-wide: 7,993
  • In genetics: 339
• Year to date:
  • Site-wide: 84,190
• Since beginning of last month:
  • Site-wide: 77,020

Reference-based phasing using the Haplotype Reference Consortium panel

• Downloaded 1,961 times
• Download rankings, all-time:
  • Site-wide: 10,259
  • In genetics: 423
• Year to date:
  • Site-wide: 95,425
• Since beginning of last month:
  • Site-wide: 86,222

Reconciling S-LDSC and LDAK models and functional enrichment estimates

• Downloaded 1,913 times
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  • Site-wide: 10,647
  • In genetics: 449
• Year to date:
  • Site-wide: 43,268
• Since beginning of last month:
  • Site-wide: 69,728

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

• Downloaded 1,732 times
• Download rankings, all-time:
  • Site-wide: 12,340
  • In genomics: 1,235
• Year to date:
  • Site-wide: 17,264
• Since beginning of last month:
  • Site-wide: 35,671

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

• Downloaded 1,707 times
• Download rankings, all-time:
  • Site-wide: 12,617
  • In genetic and genomic medicine: 62
• Year to date:
  • Site-wide: 2,445
• Since beginning of last month:
  • Site-wide: 2,885

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

• Downloaded 1,677 times
• Download rankings, all-time:
  • Site-wide: 12,963
  • In genetics: 562
• Year to date:
  • Site-wide: 107,572
• Since beginning of last month:
  • Site-wide: 54,051

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

• Downloaded 1,490 times
• Download rankings, all-time:
  • Site-wide: 15,575
  • In genetics: 689
• Year to date:
  • Site-wide: 71,484
• Since beginning of last month:
  • Site-wide: 66,496

Insights from complex trait fine-mapping across diverse populations

• Downloaded 1,343 times
• Download rankings, all-time:
  • Site-wide: 18,251
  • In genetic and genomic medicine: 84
• Year to date:
  • Site-wide: 3,471
• Since beginning of last month:
  • Site-wide: 2,748

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

• Downloaded 1,226 times
• Download rankings, all-time:
  • Site-wide: 20,950
  • In genomics: 1,953
• Year to date:
  • Site-wide: 11,991
• Since beginning of last month:
  • Site-wide: 70,086

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

• Downloaded 1,102 times
• Download rankings, all-time:
  • Site-wide: 24,640
  • In genetics: 1,076
• Year to date:
  • Site-wide: 104,300
• Since beginning of last month:
  • Site-wide: 124,319

Correcting subtle stratification in summary association statistics

• Downloaded 1,066 times
• Download rankings, all-time:
  • Site-wide: 25,932
  • In genetics: 1,138
• Year to date:
  • Site-wide: 112,573
• Since beginning of last month:
  • Site-wide: 124,272

Genes with high network connectivity are enriched for disease heritability

• Downloaded 976 times
• Download rankings, all-time:
  • Site-wide: 29,537
  • In genetics: 1,304
• Year to date:
  • Site-wide: 147,682
• Since beginning of last month:
  • Site-wide: 152,309

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

• Downloaded 937 times
• Download rankings, all-time:
  • Site-wide: 31,350
  • In genomics: 2,678
• Year to date:
  • Site-wide: 123,878
• Since beginning of last month:
  • Site-wide: 112,519

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

• Downloaded 888 times
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  • Site-wide: 33,950
  • In genetics: 1,488
• Year to date:
  • Site-wide: 137,947
• Since beginning of last month:
  • Site-wide: 145,129

Shared heritability and functional enrichment across six solid cancers

• Downloaded 577 times
• Download rankings, all-time:
  • Site-wide: 61,530
  • In genomics: 4,421
• Year to date:
  • Site-wide: 147,845
• Since beginning of last month:
  • Site-wide: 152,485

Significance testing for small annotations in stratified LD-Score regression

• Downloaded 377 times
• Download rankings, all-time:
  • Site-wide: 97,253
  • In genetic and genomic medicine: 516
• Year to date:
  • Site-wide: 24,528
• Since beginning of last month:
  • Site-wide: 23,683