@article{1bb9eb34d70741cf80f7e2af089898db,
title = "Failure to Detect Mutations in U2AF1 due to Changes in the GRCh38 Reference Sequence",
abstract = "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.",
author = "Miller, {Christopher A.} and Walker, {Jason R.} and Jensen, {Travis L.} and Hooper, {William F.} and Fulton, {Robert S.} and Painter, {Jeffrey S.} and Sekeres, {Mikkael A.} and Ley, {Timothy J.} and Spencer, {David H.} and Goll, {Johannes B.} and Walter, {Matthew J.}",
note = "Funding Information: Supported by National Cancer Institute (NCI) Research Specialist Award R50 CA211782 (C.A.M.), Genomics of Acute Myeloid Leukemia Program Project grant P01 CA101937 (T.J.L.), and the Edward P. Evans Foundation (M.J.W.). The National MDS Natural History Study has been supported by US Federal government contracts HHSN268201400003I and HHSN268201400002I from the National Heart, Lung, and Blood Institute and additional funding by the NCI to the participating member clinical centers in the NCORP and NCTN. This work has been supported in part by the Tissue Core Facility at Moffitt Cancer, an NCI designated Comprehensive Cancer Center ( P30-CA076292 ). Publisher Copyright: {\textcopyright} 2022 Association for Molecular Pathology and American Society for Investigative Pathology",
year = "2022",
month = mar,
doi = "10.1016/j.jmoldx.2021.10.013",
language = "English",
volume = "24",
pages = "219--223",
journal = "Journal of Molecular Diagnostics",
issn = "1525-1578",
number = "3",
}