Article

Failure to detect mutations in <i>U2AF1</i> due to changes in the GRCh38 reference sequence

2021-05-08

Abstract excerpt

The U2AF1 gene is a core part of mRNA splicing machinery and frequently contains somatic mutations that contribute to oncogenesis in MDS, AML, and other cancers. A change introduced in the GRCh38 version of the human reference build prevents mutations in this gene from being detected by many variant calling pipelines. We describe the problem in detail and show that a modified GRCh38 reference build with unchanged...

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Literature Corpus work: ee287079-9d98-57c8-9c70-a6be1efbf881
DOI: 10.1101/2021.05.07.442430

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