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Article

Failure to Detect Mutations in U2AF1 due to Changes in the GRCh38 Reference Sequence.

The Journal of molecular diagnostics : JMD - 1 Mar 2022

Miller Christopher A, Walker Jason R, Jensen Travis L, Hooper William F, Fulton Robert S, Painter Jeffrey S, Sekeres Mikkael A, Ley Timothy J, Spencer David H, Goll Johannes B, Walter Matthew J

Abstract excerpt

The U2AF1 gene is a core part of mRNA splicing machinery and frequently contains somatic mutations that contribute to oncogenesis in myelodysplastic syndrome, acute myeloid leukemia, and other cancers. A change introduced in the GRCh38 version of the human reference build prevents detection of mutations in this gene, and others, by variant calling pipelines. This study describes the problem in detail and shows...

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Identifiers

PMID: 35041928
DOI: 10.1016/j.jmoldx.2021.10.013
PMCID: PMC8950341

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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