🧬 Category

q-bio

1582 papers

🧬 biology

Apparent 3D-structural variant-effect signal is explained by variant category, not structure: a category-matched evaluation across nine disease loci

This study demonstrates that the apparent predictive power of a 3D chromatin structural-disruption score (ARCHCODE) for pathogenicity is largely an artifact of variant category rather than genuine structural information, as its performance collapses to chance levels when evaluated using category-matched controls, unlike established predictors such as CADD and phyloP.

Sergey Boiko2026-07-07
🧬 biology

Multi-omics integration provides insights into the symbiotic evolution of the mycoheterotrophic medicinal orchid Gastrodia elata

This study presents a chromosome-level genome assembly and pan-gene analysis of the mycoheterotrophic orchid *Gastrodia elata*, revealing extensive degeneration of photosynthetic genes, the absence of fungal-derived horizontal gene transfer despite long-term symbiosis, and the identification of specific metabolic adaptations and the expanded GAFP gene family as key mechanisms for nutrient acquisition and symbiotic homeostasis.

Yiyong Zhao, Mingjin Huang, Shanshan Luo, Linshuang Tang, Hao Yin, Daliang Liu, Zhipeng Li, Qiyu Chen, Yinjie Jiao, Meng (…)2026-07-07
🧬 biology

Reliable but Wrong? Automated Detection of Heart Rate Artifacts as a Source of Bias in Pediatric EEG Data

This study demonstrates that the widely used ICLABEL algorithm, trained primarily on adult EEG, fails to detect cardiac artifacts in pediatric data, leading to significant biases in power estimates and spurious treatment effects, thereby highlighting the critical need for supervised validation when applying automated tools to pediatric populations.

Brenna Arledge, Tori Hollen, Akhila K. Nekkanti, Elizabeth A. Skowron, Lauren E. Ethridge, David E. Bard2026-07-07
🧬 biology

A 3′ terminal sugar-specific polymerase for terminator-free single-nucleotide extension of RNA oligonucleotides

This paper introduces deoxy-mononucleotide inhibited ligation (dMIL), a fully enzymatic and terminator-free single-nucleotide extension strategy for RNA oligonucleotides that utilizes engineered *E. coli* poly(A) polymerase (EcPAP) to exploit a unique 3′ terminal sugar specificity for precise, high-fidelity synthesis.

Ki Jun Jeong, Joonyoung Lee, Seong-Gyu Lee, Jin Young Kang2026-07-07
🧬 biology

Talin controls the spatial distribution of vinculin tension in focal adhesions

This study reveals that the widely used A50I vinculin mutant retains residual talin binding, prompting the development of a superior I12K/A50I mutant which demonstrates that while talin is not required for vinculin to experience mechanical load, it is essential for recruiting vinculin to focal adhesions and organizing the spatial distribution of tension within these complexes.

Ben Goult, Till Kallem, Yanyu Guo, Meghan Reynolds, Neil Ball, Muktesh Athale, Karen Baker, Vasyl Mykuliak, Frans Ek, Si (…)2026-07-07✓ Author reviewed ⓘ