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3689 results

Full text 2026

A comprehensive genomic framework for identifying genes predisposing to homologous recombination repair-deficient breast or ovarian cancer

Camacho-Valenzuela J, Matis T, Roca C, et al.

<h4>Background</h4>Patients with clinical characteristics of increased cancer susceptibility without an identified genetic lesion are regularly seen in clinics. Association studies and matched normal/tumour sequencing have advanced the discovery of Cancer Susceptibility Genes (CSGs), with limitations …

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Bioinformatics
Full text 2026

Embedding ethics into Genomics England's Generation Study

Etheredge H, Banner N, To M, et al.

The Generation Study is a large-scale research initiative led by Genomics England in partnership with the National Health Service, aiming to evaluate the use of whole genome sequencing in newborn screening, as well as ongoing …

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Bioinformatics
Full text 2026

Viral vectors for antimicrobial peptide expression: a new path for crop protection

Basaloco M, Albuquerque A, Ribeiro JA, et al.

Antimicrobial peptides (AMPs) are key components of plant innate immunity, offering broad spectrum protection against pathogens and represent promising alternatives to chemical pesticides for sustainable crop protection. Despite their broad range antimicrobial activity and low …

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Bioinformatics
Full text 2026

Progress and prospects of parasitic plant biodiversity genomics

Kim W, Jost M, Nickrent D, et al.

Parasitic plants have evolved independently at least a dozen times across angiosperms, yielding some of the most extreme examples of genomic reconfiguration in plants. Comparative analyses of plastid, mitochondrial, and nuclear genomes reveal striking convergence …

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Bioinformatics
Full text 2025

Population health management fit lifecycles in analytics

Henry JA.

<h4>Introduction</h4>"Population Health Management (PHM), Fit Lifecycles in Analytics" examines the policy and practice of AI-driven methodologies to enhance public health and patient safety in the context of the Human Phenotype Ontology (HPO). It aims for …

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Bioinformatics
Full text 2026

Comprehensively identifying and validating the implications of NR5A1 and DHX37 variants for 46,XY disorders of sex development diagnosis

Li C, Yang B, Li X, et al.

<h4>Background</h4>The clinical phenotype and pathogenic mechanism of 46,XY disorders of sex development (DSD) are complex, and several pathogenic variants are identified by next-generation sequencing. However, these variants currently require additional interpretation and validation prior to …

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Bioinformatics