We are analyzing https://link.springer.com/article/10.1007/s00439-025-02745-x.

Title:
Advancing chronic myeloid leukemia research with next-generation sequencing: potential benefits, limitations, and future clinical integration | Human Genetics
Description:
Next-generation sequencing (NGS) has emerged as a powerful tool for advancing research in chronic myeloid leukemia (CML) by providing a deeper understanding of its genetic complexity. Beyond detecting the hallmark BCR::ABL1 fusion gene, NGS has enabled the identification of additional mutations associated with disease progression, therapy resistance, and clonal evolution. NGS also facilitates the detection of rare BCR::ABL1 fusion variants and cryptic rearrangements, offering a more refined genetic characterization of the disease. Additionally, it enhances the study of minimal residual disease (MRD) and evolving resistance patterns, which are crucial for developing targeted therapeutic strategies. However, challenges such as data interpretation, standardization, and cost constraints continue to limit the widespread application of NGS in routine research and clinical settings. This review explores the contributions of NGS to CML research, highlighting its role in uncovering novel genetic alterations, tracking clonal evolution, and identifying potential therapeutic targets. As sequencing technologies evolve, NGS is expected to further shape the future of CML research, providing critical insights that may ultimately refine disease management strategies.
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Keywords {🔍}

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Topics {✒️}

/trupcr-bcr-abl1-transcript-screening-kit bcr-abl35ins insertion/truncation mutant pradana zaky romadhon machine learning-based meta-ensemble ai-driven multi-omics integration month download article/chapter bcr-abl1 fusion transcript bcr-abl1 transcript type multi-omics data unlocks hifi long-read genomes genotype-environment-phenotype relationships ai-driven drug discovery long-read rna sequencing tyrosine kinase inhibitor-resistance bcr-abl fusion transcripts multi-scale predictive modeling prospective multi-institutional study real-time quantitative pcr real-time molecular classification genomically-based risk assessment integrated long-read epigenetic full-length transcriptome sequencing bcr-abl1 positive leukemias neoantigen-based cancer vaccines bone marrow stem/progenitors full article pdf ngs-based screening related subjects abl1 transcript type de novi la acute lymphoblastic leukemia ai-driven precision medicine chronic myeloid leukemia chronic myeloid leukemia philadelphia chromosome variants tyrosine kinase inhibitors franke g tki-resistant mutations privacy choices/manage cookies abl1 fusion gene abl kinase inhibition digital-droplet-pcr droplet digital pcr digital droplet pcr springer international publishing advancing research bcr–abl1 mutations dna-based methods comprehensive genomic profiling springer nature singapore

Questions {❓}

Luskin MR, Murakami MA, Manalis SR, Weinstock DM (2018) Targeting minimal residual disease: a path to cure?

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         description:Next-generation sequencing (NGS) has emerged as a powerful tool for advancing research in chronic myeloid leukemia (CML) by providing a deeper understanding of its genetic complexity. Beyond detecting the hallmark BCR::ABL1 fusion gene, NGS has enabled the identification of additional mutations associated with disease progression, therapy resistance, and clonal evolution. NGS also facilitates the detection of rare BCR::ABL1 fusion variants and cryptic rearrangements, offering a more refined genetic characterization of the disease. Additionally, it enhances the study of minimal residual disease (MRD) and evolving resistance patterns, which are crucial for developing targeted therapeutic strategies. However, challenges such as data interpretation, standardization, and cost constraints continue to limit the widespread application of NGS in routine research and clinical settings. This review explores the contributions of NGS to CML research, highlighting its role in uncovering novel genetic alterations, tracking clonal evolution, and identifying potential therapeutic targets. As sequencing technologies evolve, NGS is expected to further shape the future of CML research, providing critical insights that may ultimately refine disease management strategies.
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