Author: Ayellet Segre

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Preprints

Local genetic effects on gene expression across 44 human tissues

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Exploiting the GTEx resources to decipher the mechanisms at GWAS loci

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  • In genetics: 130
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Distant regulatory effects of genetic variation in multiple human tissues

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Cell type specific genetic regulation of gene expression across human tissues

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  • In genomics: 595
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A systematic survey of human tissue-specific gene expression and splicing reveals new opportunities for therapeutic target identification and evaluation

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  • In genomics: 654
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Widespread allelic heterogeneity in complex traits

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  • In genetics: 397
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Colocalization of GWAS and eQTL Signals Detects Target Genes

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  • Site-wide: 10,231
  • In genetics: 495
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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

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  • In genomics: 1,573
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Evaluating Methods for Differential Gene Expression And Alternative Splicing Using Internal Synthetic Controls.

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  • In bioinformatics: 7,794
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A tissue-aware machine learning framework enhances the mechanistic understanding and genetic diagnosis of Mendelian and rare diseases

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  • In genetics: 4,668
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