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Author: Tuuli Lappalainen

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  • All-time downloads: 45,669 (rank: 835 out of 397,094)
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    • bioinformatics: 4,406 (rank: 2,169 out of 33,824)
    • genetics: 16,808 (rank: 653 out of 36,460)
    • genomics: 24,455 (rank: 328 out of 42,183)

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Preprints

EdiTyper: a high-throughput tool for analysis of targeted sequencing data from genome editing experiments

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Tools and best practices for allelic expression analysis

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The GTEx Consortium atlas of genetic regulatory effects across human tissues

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Local genetic effects on gene expression across 44 human tissues

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Modified penetrance of coding variants by cis-regulatory variation shapes human traits

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Distant regulatory effects of genetic variation in multiple human tissues

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Exploiting the GTEx resources to decipher the mechanisms at GWAS loci

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Quantifying the regulatory effect size of cis-acting genetic variation using allelic fold change

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Landscape of X chromosome inactivation across human tissues

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Cell type specific genetic regulation of gene expression across human tissues

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Assessing allele specific expression across multiple tissues from RNA-seq read data

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Rare variant phasing and haplotypic expression from RNA-sequencing with phASER

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Diverse transcriptomic signatures across human tissues identify functional rare genetic variation

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Quantifying genetic regulatory variation in human populations improves transcriptome analysis in rare disease patients

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Transcriptome Sequencing Reveals Widespread Gene-Gene and Gene-Environment Interactions

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A vast resource of allelic expression data spanning human tissues

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Genetic regulatory effects modified by immune activation contribute to autoimmune disease associations

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Impact of admixture and ancestry on eQTL analysis and GWAS colocalization in GTEx

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A polyclonal allelic expression assay for detecting regulatory effects of transcript variants

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An autoimmune disease risk variant has a trans master regulatory effect mediated by IRF1 under immune stimulation

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RecNW: A fast pairwise aligner for targeted sequencing

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