Article

APPRIS principal isoforms and MANE Select transcripts in clinical variant interpretation

2021-09-20

Abstract excerpt

Most coding genes are able to generate multiple alternatively spliced transcripts. Determining which of these transcript variants produces the main protein isoform, and which of a gene’s multiple splice variants are functionally important, is crucial in comparative genomics and essential for clinical variant interpretation. Here we show that the principal isoforms chosen by APPRIS and the MANE Select variants prov...

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Literature Corpus work: dc7c8b59-c0ba-5b15-affe-9fbccfcf150e
DOI: 10.1101/2021.09.17.460749

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