ArticleThe Journal of molecular diagnostics : JMD2022
Failure to Detect Mutations in U2AF1 due to Changes in the GRCh38 Reference Sequence.
Article in The Journal of molecular diagnostics : JMD, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 33 papers.
What it found
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The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
33 citing papers in PubMed, 40 citations in OpenAlex.
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- Long-read cDNA sequencing reveals novel isoforms and spliceosome-mutant-enriched transcripts in AML and MDS.bioRxiv : the preprint server for biology · 2026Article
- Pre-diagnostic clonal hematopoiesis of indeterminate potential among patients with a primary cancer and risk of second cancers.Leukemia · 2026Article
- Clinical, Genetic, and Pathologic Variability in Myelodysplastic Syndromes and Precursor Conditions Across Race, Ethnicity, and Sex.American journal of hematology · 2026Observational
- Initial leukemic epigenomic state determines hypomethylating agent response.Nature communications · 2026Article
- ImmunoNX: a robust bioinformatics workflow to support personalized neoantigen vaccine trials.ArXiv · 2025Article
- Evaluation of Long-Read Genome Sequencing for Genomic Profiling of Myeloid Cancers.The Journal of molecular diagnostics : JMD · 2025Article
- Mutation of CMTR2 in Lung Adenocarcinoma Alters RNA Alternative Splicing and Reveals Therapeutic Vulnerabilities.Nature communications · 2025Article
- Clonal Hematopoiesis Dynamics and Evolutionary Fitness During Cancer Treatment Impact Clinical Outcomes.medRxiv : the preprint server for health sciences · 2025Article
- Highly accurate assembly polishing with DeepPolisher.Genome research · 2025Article
- Clonal hematopoiesis in metastatic urothelial and renal cell carcinoma.NPJ precision oncology · 2025Article
- Inflammatory reprogramming of the solid tumor microenvironment by infiltrating clonal hematopoiesis is associated with adverse outcomes.Cell reports. Medicine · 2025Article
- Experience using conventional compared to ancestry-based population descriptors in clinical genomics laboratories.American journal of human genetics · 2025Review
- Laboratory considerations for GRCh37 to GRCh38 reference genome transition: A laboratory quality assurance bulletin of the American College of Medical Genetics and Genomics (ACMG).Genetics in medicine open · 2025Article
- Unidirectional association of clonal hematopoiesis with atherosclerosis development.Nature medicine · 2024Article
- Clonal hematopoiesis and hematological malignancy.The Journal of clinical investigation · 2024Review
- Highly accurate assembly polishing with DeepPolisher.bioRxiv : the preprint server for biology · 2024Article
- Article
Corrections and comments
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Authors and funding
11 authors at 5 institutions in 1 country.
Funding
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.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.