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Full text 2026

Genomic profiling of a DICER1-wildtype thyroblastoma reveals AGK-BRAF fusion, EIF1AX duplication, and TERT promoter mutations: integrated genomic and pathway analysis

Gualandi A, Picozzi F, Di Mauro A, et al.

<h4>Introduction</h4>Thyroblastoma is a rare and highly aggressive embryonal thyroid malignancy typically associated with DICER1 alterations. However, DICER1-wildtype cases remain poorly characterized at the molecular level.<h4>Methods</h4>We report a case of aggressive thyroblastoma in a 62-year-old male, …

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Nanopore Sequencing
Full text 2026

Endogenous DNA Damage and Its Role in Human Disease

Bryan EM, Lauderback C.

Endogenous DNA damage from metabolism and genome dynamics drives mutation, instability, and disease. New insights from ACS Fall 2025 reveal chemical diversity, metabolic drivers, and repair limits that shape cancer risk and biomarker development.

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Bioinformatics
Full text 2026

Detecting foldback artifacts in long-reads

Heinz JM, Meyerson M, Li H.

Long-read sequencing data is useful for detecting large and complex structural variations; however, technical artifacts can lead to false structural variant calls. In our analyses, we became aware of a foldback artifact in long-read data. …

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Nanopore Sequencing
Full text 2026

The annotated, chromosome-scale Salicornia depressa (American pickleweed) genome

Kimball-Rhines C, Kaisla AE, Taveras Guzman S, et al.

Salicornia depressa (American pickleweed) is the most widespread member of its salt-loving genus in North America. Pickleweeds typically colonize high marsh areas that tides make highly saline. Most other salt marsh plants cannot withstand the …

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Epigenetics Genome Assembly Transcriptomics
Full text 2026

Establishment of a m&lt;sup&gt;6&lt;/sup&gt;A-Related Molecular Pattern in the Prognosis and Immune Infiltration of Osteosarcoma Using Machine Learning and Experiments

He N, Chen X, Zhang C.

<h4>Background</h4>To determine the prognosis of osteosarcoma, multiple predictive models have been constructed in recent years. Nevertheless, the model for N6-methyladenosine (m<sup>6</sup>A)-related genes, a critical subset of molecular regulators for osteosarcoma, has not been identified.<h4>Methods</h4>Gene expression …

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Epigenetics
Full text 2026

Transcriptome and resequencing reveal immune-related genes and molecular markers associated with Aeromonas salmonicida resistance in Salmo trutta fario

Zhou J, Sun S, Wang W, et al.

Understanding the molecular mechanisms underlying disease resistance in Salmo trutta fario is of fundamental importance for enhancing the health and sustainability of salmonid aquaculture. In this study, we performed an integrative multi-omics analysis combining transcriptome …

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Transcriptomics
Full text 2025

SARS-CoV-2 Detection in International Travelers Through Wastewater-Based Epidemiology at the Kigali International Airport: Genomic Surveillance Study

Edson R, Rutayisire R, El-Khatib Z, et al.

<h4>Background</h4>Traditional infectious disease surveillance systems face significant limitations, including delayed detection, underreporting of asymptomatic cases, and inequitable health care access. Wastewater-based epidemiology (WBE), enhanced with genomic analysis, offers a noninvasive and cost-effective alternative for early …

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Bioinformatics