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Author: Hilary K Finucane

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  • All-time downloads: 72,679 (rank: 460 out of 359,611)
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    • bioinformatics: 7,031 (rank: 932 (tie) out of 31,142)
    • genetics: 48,046 (rank: 68 out of 33,789)
    • genomics: 17,602 (rank: 488 out of 38,950)

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Preprints

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

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

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An Atlas of Genetic Correlations across Human Diseases and Traits

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

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

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

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

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

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

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

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Efficient Bayesian mixed model analysis increases association power in large cohorts

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Estimating the proportion of disease heritability mediated by gene expression levels

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Reference-based phasing using the Haplotype Reference Consortium panel

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

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

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Reconciling S-LDSC and LDAK models and functional enrichment estimates

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

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

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

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Correcting subtle stratification in summary association statistics

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Genes with high network connectivity are enriched for disease heritability

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

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

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Shared heritability and functional enrichment across six solid cancers

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