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Full text 2026

RNA-Based and DNA-Based Next-Generation Sequencing of KIT and PDGFRA Mutations in Gastrointestinal Stromal Tumors: Analytical Performance and Epidemiologic Insights

Jaladi S, Alvand S, Pitel BA, et al.

Mutations in the KIT and PDGFRA proto-oncogenes are key drivers in gastrointestinal stromal tumors (GIST) and guide targeted therapy. While DNA-based next-generation sequencing (NGS) is standard for mutation detection, RNA sequencing (RNA-Seq) may offer complementary …

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Transcriptomics
Full text 2026

Integrative epigenetic and transcriptomic profiling of whole blood and fibroblasts in Hao-Fountain syndrome

van der Laan L, Zwart R, Venema A, et al.

<h4>Background</h4>Hao-Fountain syndrome (HAFOUS) is a rare autosomal dominant neurodevelopmental disorder caused by pathogenic <i>USP7</i> variants. A diagnostic blood DNA methylation episignature has been established, yet the broader regulatory consequences of <i>USP7</i> haploinsufficiency and their tissue …

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Epigenetics Transcriptomics
Full text 2026

H3K4me3 CUT&amp;Tag and Transcriptome Analysis Reveal the Epigenetic Regulatory Landscape in Mammary Gland Tissues of Yili Horses at Different Lactation Stages

Liu L, Cao H, Ma H, et al.

H3K4me3, a well-established histone modification associated with active promoters, plays a critical role in orchestrating gene expression programs that govern mammary gland development and lactation. In this study, we present the first comprehensive epigenomic profiling …

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Epigenetics Transcriptomics