Systematic errors in annotations of truncations, loss-of-function and synonymous variants
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DOI: 10.3389/fgene.2023.1015017
Abstract: Description of genetic phenomena and variations requires exact language and concepts. Vast amounts of variation data are produced with next-generation sequencing pipelines. The obtained variations are automatically annotated, e.g., for their functional consequences. These tools… read more here.
Keywords: systematic errors; errors annotations; synonymous variants; loss function ... See more keywords