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A dedicated caller for DUX4 rearrangements from whole-genome sequencing data.

BMC Med Genomics

January 2025

Illumina Cambridge Ltd., Granta Park, Great Abington, Cambridge, UK.

Rearrangements involving the DUX4 gene (DUX4-r) define a subtype of paediatric and adult acute lymphoblastic leukaemia (ALL) with a favourable outcome. Currently, there is no 'standard of care' diagnostic method for their confident identification. Here, we present an open-source software tool designed to detect DUX4-r from short-read, whole-genome sequencing (WGS) data.

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The extraction of plant essential oils (EOs) and analysis by gas chromatography coupled to mass spectrometry (GC-MS) are standard methods when studying aromatic plants and the chemical composition of EOs. Here, two simple methods for the extraction of EO compounds from leaves of Thymus vulgaris are described. Organic solvent extraction and solid-phase microextraction (SPME), respectively, are used and the results of the GC-MS analyses are compared.

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A comprehensive insights of cancer immunotherapy resistance.

Med Oncol

January 2025

Department of In Vivo Pharmacology, TCG Lifesciences Pvt. Ltd, BN 7, Sector V, Salt Lake City, Kolkata, West Bengal, 700091, India.

Cancer is a major global health issue that is usually treated with multiple therapies, such as chemotherapy and targeted therapies like immunotherapy. Immunotherapy is a new and alternative approach to treating various types of cancer that are difficult to treat with other methods. Although immune checkpoint inhibitors have shown promise for long-term efficacy, they have limited effectiveness in common cancer types such as breast, prostate, and lung.

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Murine-related helminthiasis is a frequently overlooked zoonotic disease with significant public health implications. The role of murine rodents in transmitting these infections to other animals remains under-researched. This study aimed to investigate murine-related helminth infections at solid waste sites, particularly in forest-adjacent communities where murine rodent populations are high and multi-host interactions are possible.

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MicroRNAs signatures as potential molecular markers in mild cognitive impairment: a meta-analysis.

Front Aging Neurosci

January 2025

Experimental and Computational Biochemistry, Department of Nutrition and Biochemistry, Faculty of Sciences, Pontificia Universidad Javeriana, Bogotá, Colombia.

Mild cognitive impairment (MCI) is characterized by a decline in cognitive functioning without significant interference in daily activities. Its high heterogeneity and elevated conversion rate to dementia pose challenges for accurate diagnosis and monitoring, highlighting the urgent need to identify methodologies focused on the early detection and intervention of MCI. Due to their biological characteristics, microRNAs (miRNAs) are potential candidates as non-invasive molecular markers for the identification and assessment of MCI progression.

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