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Full text 2026

XhetRel: a pipeline for X heterozygosity and relatedness analysis of sequencing data

Salman B, Bebek N, Uğur İşeri S.

<h4>Motivation</h4>Verification of sample sex is an essential quality control step in next-generation sequencing studies, typically assessed from genomic data. Clustering individuals by X chromosome heterozygosity (Xhet) and incorporating relatedness estimates offers a practical first-pass screen …

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Bioinformatics Workflows & Pipelines
Full text 2026

Draft genome of extended-spectrum β-lactamase-producing multidrug-resistant &lt;i&gt;Salmonella enterica&lt;/i&gt; serovar Brandearup strain DE0603 from an urban river in South Africa

Duze ST, Marimani M, Patel M.

We report the draft genome of multidrug-resistant <i>Salmonella enterica</i> serovar Braenderup strain DE0603, isolated from an urban river in Johannesburg, South Africa. The isolate was identified as sequence type 22 and carries multiple resistance genes, …

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Bioinformatics
Full text 2026

ASPM promotes the progression of ovarian endometriosis by modulating the cell cycle and activating the Wnt/β-catenin signaling pathway

Liu X, Qin R, Zheng F.

<h4>Background</h4>Endometriosis (EMs) is a common gynecological disorder associated with impaired fertility and reduced quality of life. This study investigated abnormal spindle-like microcephaly-associated protein (ASPM), identified as a hub gene in EMs pathogenesis, and explored its …

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Bioinformatics Transcriptomics
Full text 2026

Sketchbook: logical model inference from Boolean network sketches

Huvar O, Beneš N, Brim L, et al.

<h4>Summary</h4>Sketchbook is a tool for design and analysis of <i>Boolean network sketches</i>, a framework for partial specification of Boolean network models combining static and dynamic logical constraints. The tool combines an intuitive graphical interface with …

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Bioinformatics
Full text 2025

BIWT: a bioinformatics walkthrough for embedding spatial multiomics in agent-based models for virtual cells

Bergman DR, Johnson JAI, Naji M, et al.

<h4>Summary</h4>Whereas transcriptomic and spatial profiling offer static snapshots of tissue structure, mechanistic models use biological rules to predict how tissues evolve. We present the BioInformatics WalkThrough (BIWT) software to directly initialize spatial agent-based models from …

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Bioinformatics Single-Cell Transcriptomics
Full text 2026

Integrating curation into scientific publishing to train AI models

Abreu-Vicente J, Sonntag H, Eidens T, et al.

<h4>Motivation</h4>High-throughput extraction and structured labeling of data from academic articles are crucial for enabling downstream machine learning applications and secondary analyses. Current approaches lack integration with the publishing process and comprehensive annotation of experimental roles …

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Bioinformatics