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Author: Steven Gazal

Rankings

  • All-time downloads: 72,691 (rank: 3,280 )
  • Categories:
    • genetic and genomic medicine: 4,311 (rank: 1,205 (tie) )
    • genetics: 50,058 (rank: 100 )
    • genomics: 15,961 (rank: 1,308 )

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Preprints

Identifying disease-critical cell types and cellular processes across the human body by integration of single-cell profiles and human genetics

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A single-cell and spatial atlas of autopsy tissues reveals pathology and cellular targets of SARS-CoV-2

genomics more details view paper
  • Downloaded 6,348 times
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    • Site-wide: 2,462
    • In genomics: 188
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LDpred-funct: incorporating functional priors improves polygenic prediction accuracy in UK Biobank and 23andMe data sets

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  • Downloaded 5,602 times
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    • Site-wide: 2,923
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    • Site-wide: 22,759
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    • Site-wide: 19,092

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

genetics more details view paper
  • Downloaded 4,502 times
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    • Site-wide: 3,921
    • In genetics: 109
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Mixed model association for biobank-scale data sets

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  • Downloaded 3,526 times
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    • In genetics: 182
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Large scale genome-wide association study in a Japanese population identified 45 novel susceptibility loci for 22 diseases

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  • Downloaded 3,257 times
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    • Site-wide: 6,303
    • In genetics: 226
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Leveraging fine-mapping and non-European training data to improve cross-population polygenic risk scores

genetic and genomic medicine more details view paper
  • Downloaded 3,175 times
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    • Site-wide: 6,561
    • In genetic and genomic medicine: 38
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Estimating heritability and its enrichment in tissue-specific gene sets in admixed populations

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  • Downloaded 3,110 times
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    • In genetics: 241
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    • Site-wide: 62,136
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Linkage disequilibrium dependent architecture of human complex traits reveals action of negative selection

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    • In genetics: 253
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Functionally-informed fine-mapping and polygenic localization of complex trait heritability

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    • Site-wide: 7,277
    • In genetics: 264
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Detecting genome-wide directional effects of transcription factor binding on polygenic disease risk

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    • Site-wide: 8,027
    • In genetics: 296
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    • Site-wide: 120,590
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Polygenicity of complex traits is explained by negative selection

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    • Site-wide: 12,280
    • In genetics: 443
  • Year to date:
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Reconciling S-LDSC and LDAK models and functional enrichment estimates

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    • Site-wide: 12,515
    • In genetics: 470
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Population-specific causal disease effect sizes in functionally important regions impacted by selection

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    • Site-wide: 13,331
    • In genetics: 509
  • Year to date:
    • Site-wide: 113,701
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    • Site-wide: 66,397

Leveraging molecular QTL to understand the genetic architecture of diseases and complex traits

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    • Site-wide: 14,951
    • In genetics: 589
  • Year to date:
    • Site-wide: 163,421
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    • Site-wide: 94,460

Leveraging polygenic functional enrichment to improve GWAS power

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  • Downloaded 1,440 times
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    • Site-wide: 21,645
    • In genetics: 850
  • Year to date:
    • Site-wide: 183,684
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    • Site-wide: 198,620

Combining case-control status and family history of disease increases association power

genetics more details view paper
  • Downloaded 1,439 times
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    • Site-wide: 21,654
    • In genetics: 871
  • Year to date:
    • Site-wide: 104,465
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    • Site-wide: 109,458

Combining SNP-to-gene linking strategies to pinpoint disease genes and assess disease omnigenicity

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  • Downloaded 1,406 times
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    • Site-wide: 22,496
    • In genetic and genomic medicine: 137
  • Year to date:
    • Site-wide: 7,343
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    • Site-wide: 26,910

Improving the informativeness of Mendelian disease-derived pathogenicity scores for common disease

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    • Site-wide: 27,454
    • In genetics: 1,066
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    • Site-wide: 170,754
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    • Site-wide: 144,906

IMPACT: Genomic annotation of cell-state-specific regulatory elements inferred from the epigenome of bound transcription factors

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  • Downloaded 1,229 times
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    • Site-wide: 27,871
    • In genetics: 1,085
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    • Site-wide: 156,135
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    • Site-wide: 197,129

Quantification of genetic components of population differentiation in UK Biobank traits reveals signals of polygenic selection

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  • Downloaded 1,140 times
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    • Site-wide: 31,364
    • In genetics: 1,242
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    • Site-wide: 150,286
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Low-frequency variant functional architectures reveal strength of negative selection across coding and non-coding annotations

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  • Downloaded 1,139 times
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    • Site-wide: 31,389
    • In genetics: 1,226
  • Year to date:
    • Site-wide: 198,879
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    • Site-wide: 187,260

Genes with high network connectivity are enriched for disease heritability

genetics more details view paper
  • Downloaded 1,017 times
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    • Site-wide: 37,295
    • In genetics: 1,445
  • Year to date:
    • Site-wide: 192,525
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    • Site-wide: 167,890

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

genomics more details view paper
  • Downloaded 978 times
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    • Site-wide: 39,606
    • In genomics: 3,026
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    • Site-wide: 196,755
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    • Site-wide: 172,653

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

genetics more details view paper
  • Downloaded 952 times
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    • Site-wide: 41,348
    • In genetics: 1,626
  • Year to date:
    • Site-wide: 156,393
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    • Site-wide: 107,819

Integrative approaches to improve the informativeness of deep learning models for human complex diseases

genetics more details view paper
  • Downloaded 930 times
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    • Site-wide: 42,861
    • In genetics: 1,794
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    • Site-wide: 39,018
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The lingering effects of Neanderthal introgression on human complex traits

genetics more details view paper
  • Downloaded 769 times
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    • Site-wide: 56,997
    • In genetics: 3,650
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    • Site-wide: 6,032

Annotations capturing cell-type-specific TF binding explain a large fraction of disease heritability

genetics more details view paper
  • Downloaded 738 times
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    • Site-wide: 60,495
    • In genetics: 2,299
  • Year to date:
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    • Site-wide: 169,905

Partitioning gene-mediated disease heritability without eQTLs

genetics more details view paper
  • Downloaded 730 times
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    • Site-wide: 61,431
    • In genetics: 2,392
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An integrated approach to identify environmental modulators of genetic risk factors for complex traits

genomics more details view paper
  • Downloaded 722 times
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    • In genomics: 4,226
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    • Site-wide: 110,200
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Disease heritability enrichment of regulatory elements is concentrated in elements with ancient sequence age and conserved function across species

genetics more details view paper
  • Downloaded 643 times
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    • Site-wide: 73,444
    • In genetics: 2,790
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Partitioning gene-level contributions to complex-trait heritability by allele frequency identifies disease-relevant genes

genetics more details view paper
  • Downloaded 594 times
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    • Site-wide: 81,268
    • In genetics: 3,102
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Functional disease architectures reveal unique biological role of transposable elements

genetics more details view paper
  • Downloaded 558 times
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    • In genetics: 3,303
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