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Author: Steven Gazal

Rankings

  • All-time downloads: 60,699 (rank: 3,140 )
  • Categories:
    • genetic and genomic medicine: 2,851 (rank: 1,456 (tie) )
    • genetics: 47,296 (rank: 96 )
    • genomics: 10,552 (rank: 2,095 )

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Preprints

LDpred-funct: incorporating functional priors improves polygenic prediction accuracy in UK Biobank and 23andMe data sets

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

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

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    • In genetics: 99
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Identifying disease-critical cell types and cellular processes across the human body by integration of single-cell profiles and human genetics

genomics more details view paper
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Mixed model association for biobank-scale data sets

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

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    • In genetics: 225
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Linkage disequilibrium dependent architecture of human complex traits reveals action of negative selection

genetics more details view paper
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    • In genetics: 227
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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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    • In genetics: 248
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Functionally-informed fine-mapping and polygenic localization of complex trait heritability

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

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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
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Polygenicity of complex traits is explained by negative selection

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    • In genetics: 398
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Reconciling S-LDSC and LDAK models and functional enrichment estimates

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    • In genetics: 450
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Population-specific causal disease effect sizes in functionally important regions impacted by selection

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    • In genetics: 467
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Leveraging molecular QTL to understand the genetic architecture of diseases and complex traits

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    • Site-wide: 12,015
    • In genetics: 513
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    • Site-wide: 120,605
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Leveraging polygenic functional enrichment to improve GWAS power

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    • Site-wide: 17,352
    • In genetics: 769
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    • Site-wide: 136,597

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

genetics more details view paper
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    • Site-wide: 18,196
    • In genetics: 809
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Improving the informativeness of Mendelian disease-derived pathogenicity scores for common disease

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    • Site-wide: 21,987
    • In genetics: 958
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    • Site-wide: 75,164
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    • Site-wide: 103,435

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

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

genetics more details view paper
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    • Site-wide: 24,752
    • In genetics: 1,078
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Quantification of genetic components of population differentiation in UK Biobank traits reveals signals of polygenic selection

genetics more details view paper
  • Downloaded 1,076 times
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    • Site-wide: 25,688
    • In genetics: 1,127
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Genes with high network connectivity are enriched for disease heritability

genetics more details view paper
  • Downloaded 976 times
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    • Site-wide: 29,707
    • In genetics: 1,304
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Functional partitioning of local and distal gene expression regulation in multiple human tissues

genomics more details view paper
  • Downloaded 937 times
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    • Site-wide: 31,499
    • In genomics: 2,680
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Quantification of frequency-dependent genetic architectures and action of negative selection in 25 UK Biobank traits

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  • Downloaded 893 times
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    • Site-wide: 33,808
    • In genetics: 1,478
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Annotations capturing cell-type-specific TF binding explain a large fraction of disease heritability

genetics more details view paper
  • Downloaded 705 times
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    • Site-wide: 47,395
    • In genetics: 2,030
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    • Site-wide: 108,318
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Combining SNP-to-gene linking strategies to pinpoint disease genes and assess disease omnigenicity

genetic and genomic medicine more details view paper
  • Downloaded 702 times
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    • Site-wide: 47,723
    • In genetic and genomic medicine: 223
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Integrative approaches to improve the informativeness of deep learning models for human complex diseases

genetics more details view paper
  • Downloaded 665 times
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    • Site-wide: 51,359
    • In genetics: 2,187
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An integrated approach to identify environmental modulators of genetic risk factors for complex traits

genomics more details view paper
  • Downloaded 633 times
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    • In genomics: 4,067
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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 604 times
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    • In genetics: 2,467
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Functional disease architectures reveal unique biological role of transposable elements

genetics more details view paper
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    • In genetics: 2,914
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Partitioning gene-mediated disease heritability without eQTLs

genetics more details view paper
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    • In genetics: 3,081
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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 381 times
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    • Site-wide: 96,811
    • In genetics: 4,001
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