Article

Transcriptome analysis provides critical answers to the “variants of uncertain significance” conundrum

2022-01-11

Abstract excerpt

The vast volume of data that has been generated as a result of the next-generation sequencing revolution is overwhelming to sift through and interpret. Parsing functional vs. non-functional and benign vs. pathogenic variants continues to be a challenge. Out of three billion bases, the genomes of two given individuals will only differ by about 3 million variants (0.1%). Furthermore, only a small fraction of these a...

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Literature Corpus work: ab4bb0ff-6f7d-5445-ac52-e583a1ad1adf
DOI: 10.22541/au.164191366.62767430/v1

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