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Transcriptomic signatures across human tissues identify functional rare genetic variation
2020
Science
Rare genetic variants are abundant across the human genome, and identifying their function and phenotypic impact is a major challenge. Measuring aberrant gene expression has aided in identifying functional, large-effect rare variants (RVs). Here, we expanded detection of genetically driven transcriptome abnormalities by analyzing gene expression, allele-specific expression, and alternative splicing from multitissue RNA-sequencing data, and demonstrate that each signal informs unique classes of
doi:10.1126/science.aaz5900
pmid:32913073
pmcid:PMC7646251
fatcat:woalmwti2nayrpaz26kr6wxfam