Failure to Detect Mutations in U2AF1 due to Changes in the GRCh38 Reference Sequence.
J Mol Diagn
; 24(3): 219-223, 2022 03.
Article
em En
| MEDLINE
| ID: mdl-35041928
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 that a modified GRCh38 reference build with unchanged coordinates can be used to ameliorate the issue.
Texto completo:
1
Base de dados:
MEDLINE
Assunto principal:
Leucemia Mieloide Aguda
Limite:
Humans
Idioma:
En
Ano de publicação:
2022
Tipo de documento:
Article