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Failure to Detect Mutations in U2AF1 due to Changes in the GRCh38 Reference Sequence.
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.
Afiliação
  • Miller CA; Division of Oncology, Department of Internal Medicine, Washington University School of Medicine, St. Louis, Missouri; Siteman Cancer Center, Washington University School of Medicine, St. Louis, Missouri. Electronic address: c.a.miller@wustl.edu.
  • Walker JR; McDonnell Genome Institute, Washington University School of Medicine, St. Louis, Missouri.
  • Jensen TL; The Emmes Company, Rockville, Maryland.
  • Hooper WF; The Emmes Company, Rockville, Maryland.
  • Fulton RS; McDonnell Genome Institute, Washington University School of Medicine, St. Louis, Missouri.
  • Painter JS; Moffitt Cancer Center, Tampa, Florida.
  • Sekeres MA; Division of Hematology, Department of Medicine, Sylvester Comprehensive Cancer Center, University of Miami School of Medicine, Miami, Florida.
  • Ley TJ; Division of Oncology, Department of Internal Medicine, Washington University School of Medicine, St. Louis, Missouri; Siteman Cancer Center, Washington University School of Medicine, St. Louis, Missouri.
  • Spencer DH; Division of Oncology, Department of Internal Medicine, Washington University School of Medicine, St. Louis, Missouri; Siteman Cancer Center, Washington University School of Medicine, St. Louis, Missouri; Department of Pathology and Immunology, Washington University School of Medicine, St. Louis, Mis
  • Goll JB; The Emmes Company, Rockville, Maryland.
  • Walter MJ; Division of Oncology, Department of Internal Medicine, Washington University School of Medicine, St. Louis, Missouri; Siteman Cancer Center, Washington University School of Medicine, St. Louis, Missouri.
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.
Assuntos

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Leucemia Mieloide Aguda Limite: Humans Idioma: En Ano de publicação: 2022 Tipo de documento: Article

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Leucemia Mieloide Aguda Limite: Humans Idioma: En Ano de publicação: 2022 Tipo de documento: Article