Article

Widespread naturally variable human exons aid genetic interpretation

2024-09-11

Abstract excerpt

Most mammalian genes undergo alternative splicing. The splicing of some exons has been acquired or lost in specific mammalian lineages, but differences in splicing within the human population are poorly characterized. Using GTEx tissue transcriptomes from 838 individuals, we identified 56,415 exons which are included in mRNAs in some individuals but entirely excluded from others, which we term “naturally variable...

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Literature Corpus work: d85adb79-bae3-5539-9971-cf817607bfaf
DOI: 10.1101/2024.09.09.612029

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