Author: Alvaro N. Barbeira

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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

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The GTEx Consortium atlas of genetic regulatory effects across human tissues

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Transcriptome-wide association studies: opportunities and challenges

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  • In genetics: 74
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Exploiting the GTEx resources to decipher the mechanisms at GWAS loci

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Diverse transcriptomic signatures across human tissues identify functional rare genetic variation

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PhenomeXcan: Mapping the genome to the phenome through the transcriptome

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  • In genetics: 483
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Integrative cross tissue analysis of gene expression identifies novel type 2 diabetes genes

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

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Integrating Predicted Transcriptome From Multiple Tissues Improves Association Detection

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Imputed gene associations identify replicable trans-acting genes enriched in transcription pathways and complex traits

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

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Scalable unified framework of total and allele-specific counts for cis-QTL, fine-mapping, and prediction

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Cancer eQTLs can be determined from heterogeneous tumor gene expression data by modeling variation in tumor purity

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  • In genomics: 4,418
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Pleiotropy-guided transcriptome imputation from normal and tumor tissues identifies new candidate susceptibility genes for breast and ovarian cancer

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