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Author: Alvaro N. Barbeira

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  • All-time downloads: 35,735 (rank: 1,034 out of 365,210)
  • Categories:
    • bioinformatics: 10,400 (rank: 492 (tie) out of 31,489)
    • genetics: 11,635 (rank: 1,012 out of 34,154)
    • genomics: 13,700 (rank: 826 out of 39,299)

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Preprints

Exploring the phenotypic consequences of tissue specific gene expression variation inferred from GWAS summary statistics

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LeafCutter: Annotation-free quantification of RNA splicing

genomics more details view paper
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The GTEx Consortium atlas of genetic regulatory effects across human tissues

genetics more details view paper
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Exploiting the GTEx resources to decipher the mechanisms at GWAS loci

genetics more details view paper
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Cell type specific genetic regulation of gene expression across human tissues

genomics more details view paper
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Diverse transcriptomic signatures across human tissues identify functional rare genetic variation

genomics more details view paper
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Integrative cross tissue analysis of gene expression identifies novel type 2 diabetes genes

genetics more details view paper
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PhenomeXcan: Mapping the genome to the phenome through the transcriptome

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Mechanisms of tissue-specific genetic regulation revealed by latent factors across eQTLs

genomics more details view paper
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Integrating Predicted Transcriptome From Multiple Tissues Improves Association Detection

genomics more details view paper
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    • In genomics: 1,641 out of 5,475
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Imputed gene associations identify replicable trans-acting genes enriched in transcription pathways and complex traits

genetics more details view paper
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    • In genetics: 1,311 out of 4,454
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Investigating tissue-relevant causal molecular mechanisms of complex traits using probabilistic TWAS analysis

genetics more details view paper
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Cancer eQTLs can be determined from heterogeneous tumor gene expression data by modeling variation in tumor purity

genomics more details view paper
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Scalable unified framework of total and allele-specific counts for cis-QTL, fine-mapping, and prediction

genomics more details view paper
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    • Site-wide: 4,088 out of 84,901

Fine-mapping and QTL tissue-sharing information improve causal gene identification and transcriptome prediction performance

genomics more details view paper
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    • In genomics: 4,349 out of 5,475
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    • Site-wide: 7,270 out of 84,901
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    • Site-wide: 5,433 out of 84,901

Pleiotropy-guided transcriptome imputation from normal and tumor tissues identifies new candidate susceptibility genes for breast and ovarian cancer

genetics more details view paper
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    • In genetics: 3,413 out of 4,454
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