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Author: Alkes Price

Rankings

  • All-time downloads: 175,227 (rank: 639 )
  • Categories:
    • bioinformatics: 12,366 (rank: 725 )
    • genetics: 108,165 (rank: 16 )
    • genomics: 54,696 (rank: 187 )

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Preprints

Quantitative analysis of population-scale family trees using millions of relatives

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An Atlas of Genetic Correlations across Human Diseases and Traits

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Partitioning heritability by functional category using GWAS summary statistics

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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

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LD Score Regression Distinguishes Confounding from Polygenicity in Genome-Wide Association Studies

genomics more details view paper
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LDpred-funct: incorporating functional priors improves polygenic prediction accuracy in UK Biobank and 23andMe data sets

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    • Site-wide: 2,486
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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
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Distinguishing genetic correlation from causation across 52 diseases and complex traits

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Regulatory variants explain much more heritability than coding variants across 11 common diseases

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    • Site-wide: 3,058
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Heritability enrichment of specifically expressed genes identifies disease-relevant tissues and cell types

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    • Site-wide: 3,194
    • In genetics: 99
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Mixed model association for biobank-scale data sets

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    • In genetics: 164
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Contrasting regional architectures of schizophrenia and other complex diseases using fast variance components analysis

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    • Site-wide: 4,827
    • In genetics: 179
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Genome-wide maps of enhancer regulation connect risk variants to disease genes

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Haplotypes of common SNPs can explain missing heritability of complex diseases

genetics more details view paper
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    • Site-wide: 5,015
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Fast principal components analysis reveals convergent evolution of ADH1B gene in Europe and East Asia

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    • In bioinformatics: 499
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Dissecting the genetics of complex traits using summary association statistics

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Integrative approaches for large-scale transcriptome-wide association studies

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  • Downloaded 2,991 times
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    • Site-wide: 5,536
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Estimating heritability and its enrichment in tissue-specific gene sets in admixed populations

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    • Site-wide: 5,650
    • In genetics: 225
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    • Site-wide: 9,915
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Linkage disequilibrium dependent architecture of human complex traits reveals action of negative selection

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

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    • Site-wide: 6,168
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Detecting genome-wide directional effects of transcription factor binding on polygenic disease risk

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

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    • In genomics: 669
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Fast and accurate long-range phasing in a UK Biobank cohort

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  • Downloaded 2,432 times
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    • Site-wide: 7,487
    • In genetics: 314
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    • Site-wide: 89,254
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Efficient Bayesian mixed model analysis increases association power in large cohorts

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    • Site-wide: 7,962
    • In genetics: 336
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Estimating the proportion of disease heritability mediated by gene expression levels

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    • Site-wide: 8,000
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Polygenicity of complex traits is explained by negative selection

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  • Downloaded 2,014 times
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    • Site-wide: 9,898
    • In genetics: 400
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Abundant contribution of short tandem repeats to gene expression variation in humans

genomics more details view paper
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    • Site-wide: 10,274
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Reference-based phasing using the Haplotype Reference Consortium panel

genetics more details view paper
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    • Site-wide: 10,297
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Reconciling S-LDSC and LDAK models and functional enrichment estimates

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Population-specific causal disease effect sizes in functionally important regions impacted by selection

genetics more details view paper
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Quantifying genetic effects on disease mediated by assayed gene expression levels

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Multi-ethnic polygenic risk scores improve risk prediction in diverse populations.

bioinformatics more details view paper
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    • Site-wide: 11,399
    • In bioinformatics: 1,278
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Transethnic genetic correlation estimates from summary statistics

genetics more details view paper
  • Downloaded 1,814 times
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    • Site-wide: 11,570
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Population structure of UK Biobank and ancient Eurasians reveals adaptation at genes influencing blood pressure

genetics more details view paper
  • Downloaded 1,785 times
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Leveraging molecular QTL to understand the genetic architecture of diseases and complex traits

genetics more details view paper
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In silico integration of thousands of epigenetic datasets into 707 cell type regulatory annotations improves the trans-ethnic portability of polygenic risk scores

genetics more details view paper
  • Downloaded 1,502 times
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    • Site-wide: 15,433
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Mixed Model with Correction for Case-Control Ascertainment Increases Association Power

genetics more details view paper
  • Downloaded 1,447 times
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    • Site-wide: 16,363
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    • Site-wide: 157,102
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Leveraging polygenic functional enrichment to improve GWAS power

genetics more details view paper
  • Downloaded 1,394 times
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    • Site-wide: 17,347
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Combining case-control status and family history of disease increases association power

genetics more details view paper
  • Downloaded 1,349 times
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    • Site-wide: 18,203
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Evaluating the informativeness of deep learning annotations for human complex diseases

genetics more details view paper
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Genomic analyses for age at menarche identify 389 independent signals and indicate BMI-independent effects of puberty timing on cancer susceptibility

genomics more details view paper
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High-throughput inference of pairwise coalescence times identifies signals of selection and enriched disease heritability

genetics more details view paper
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Identifying loci with different allele frequencies among cases of eight psychiatric disorders using CC-GWAS

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Subtle stratification confounds estimates of heritability from rare variants

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

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GBAT: a gene-based association method for robust trans-gene regulation detection

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

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

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    • Site-wide: 25,660
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Correcting subtle stratification in summary association statistics

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    • Site-wide: 26,038
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Two variance component model improves genetic prediction in family data sets

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Genes with high network connectivity are enriched for disease heritability

genetics more details view paper
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Modeling memory T cell states at single-cell resolution identifies in vivo state-dependence of eQTLs influencing disease

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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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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: 33,789
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Leveraging single-cell ATAC-seq to identify disease-critical fetal and adult brain cell types

genetics more details view paper
  • Downloaded 846 times
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    • Site-wide: 36,476
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    • Site-wide: 7,040
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Incorporating family history of disease improves polygenic risk scores in diverse populations

genetics more details view paper
  • Downloaded 825 times
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    • Site-wide: 37,920
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    • Site-wide: 7,343
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Leveraging distant relatedness to quantify human mutation and gene conversion rates

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  • Downloaded 806 times
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    • Site-wide: 39,171
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    • Site-wide: 153,034
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Negative short-range genomic autocorrelation of causal effects on human complex traits

genetics more details view paper
  • Downloaded 749 times
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    • Site-wide: 43,590
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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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Integrative approaches to improve the informativeness of deep learning models for human complex diseases

genetics more details view paper
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Local joint testing improves power and identifies missing heritability in association studies

genetics more details view paper
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    • Site-wide: 53,952
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Explicit modeling of ancestry improves polygenic risk scores and BLUP prediction

genetics more details view paper
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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
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Shared heritability and functional enrichment across six solid cancers

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Functional disease architectures reveal unique biological role of transposable elements

genetics more details view paper
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Mixed Model Association with Family-Biased Case-Control Ascertainment

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Leveraging gene co-regulation to identify gene sets enriched for disease heritability

genetics more details view paper
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