Article

Diverse transcriptomic signatures across human tissues identify functional rare genetic variation

2019-10-03

Abstract excerpt

Rare genetic variation is abundant in the human genome, yet identifying functional rare variants and their impact on traits remains challenging. Measuring aberrant gene expression has aided in identifying functional, large-effect rare variants. Here, we expand detection of genetically driven transcriptome abnormalities by evaluating and integrating gene expression, allele-specific expression, and alternative splic...

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Literature Corpus work: 2f21424e-a45c-5291-8b0f-2446015668ce
DOI: 10.1101/786053

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