genomics papers | Gist.Science

Genomics is the study of an organism's complete set of DNA, offering a deep dive into the biological instructions that shape life. This field explores how genetic information influences traits, health, and evolution, moving beyond single genes to understand the complex interplay within entire genomes. From uncovering the roots of disease to mapping biodiversity, genomics provides the foundational data for many modern medical breakthroughs.

At Gist.Science, we process every new preprint in this category as it appears on bioRxiv, ensuring you stay ahead of the curve. Each paper is accompanied by both a clear, plain-language overview and a detailed technical summary, making cutting-edge research accessible to everyone regardless of their background. Below are the latest papers in genomics, freshly summarized and ready for you to explore.

🧬 genomics

Functional characterisation of an essential neo-chromosome III in Sc2.0 strain reveals opportunities and challenges for genome minimisation in Sc3.0

This study establishes a modular platform for eukaryotic genome minimization by engineering an essential neo-chromosome III in the Sc2.0 yeast strain that relocates essential genes to enable extensive SCRaMbLE-mediated deletions, while demonstrating the viability of orthogonal regulatory elements and the stability of highly synthetic chromosome architectures.

Swidah, R., Monti, M.2026-04-22

🧬 genomics

Estimating protein isoform abundances with PAQu

The paper introduces PAQu, a novel Bayesian method that integrates transcriptomic and peptidomic data to accurately estimate protein isoform abundances and detect differential expression, successfully validating increased C4A isoform levels in schizophrenia.

Testa, L., Klei, L., Rengle, A., Yocum, A., Lewis, D. A., Devlin, B., Roeder, K., MacDonald, M. L.2026-04-22

🧬 genomics

Collateral mutagenesis funnels multiple sources of DNA damage into a ubiquitous mutational signature

This study proposes that the ubiquitous mutational signature SBS5 arises from a "collateral mutagenesis" funnel where diverse sources of endogenous and exogenous DNA damage, processed through both translesion synthesis and DNA repair, converge to produce a consistent mutation spectrum across all human cell types.

Spisak, N., de Manuel, M., Przeworski, M.2026-04-20

🧬 genomics

Single-Plant Genome-Wide Association Study Identifies Loci Controlling Multiple Vegetative Architecture Traits in Cultivated Northern Wild Rice (Zizania palustris L.)

This study demonstrates that a single-plant genome-wide association study (sp-GWAS) framework can effectively identify polygenic loci and candidate genes controlling multiple vegetative architecture traits in cultivated Northern Wild Rice, providing a foundation for genomic selection to accelerate the improvement of this emerging aquatic crop.

McGilp, L., Millas, R., Mickelson, A., Shannon, L. M., Kimball, J.2026-04-19

🧬 genomics

Improved deconvolution of circulating tumor DNA from ultra-low-pass whole-genome methylation sequencing using CelFiE-ISH

This study demonstrates that the CelFiE-ISH framework, when applied to ultra-low-pass whole-genome methylation sequencing from Oxford Nanopore data, can detect circulating tumor DNA in epithelial cancers at fractions as low as 1.7–3.1% by utilizing a refined set of epithelial-specific methylation markers.

Katsman, E., Isaac, S., Darwish, A., Maoz, M., Inbar, M., Marouani, M., Unterman, I., Gugenheim, A., Salaymeh, N., Abu K (…)2026-04-18

🧬 genomics

Dynamic regulation of long non-coding RNAs across asexual andgametocyte development in Plasmodium falciparum

By integrating long-read direct RNA sequencing, ribosome profiling, and single-cell transcriptomics, this study provides a robust, stage-specific characterization of *Plasmodium falciparum* long non-coding RNAs, revealing their abundance in mature gametocytes and suggesting critical roles in regulating gene expression during sexual development and transmission.

Gruenebast, J., Singhal, R., Olson, S., Bromley, R., Kanatani, S., Ko, K., Dunning Hotopp, J. C., Sinnis, P., Llinas, M. (…)2026-04-18

🧬 genomics

Detection of a sequence feature for recursive splicing

This study identifies distinct CG-rich sequence motifs flanking the first intron that serve as a predictive feature for recursive splicing, suggesting that early RNA synthesis events establish the usage of these sites throughout the transcript.

Wang, B., Yang, K., Barash, Y., Choi, P., Mount, S. M., Larson, D. R.2026-04-17

🧬 genomics

Genome sequencing and multi-stage, blood-feeding, and tissue-specific transcriptome atlas of the Rocky Mountain wood tick provide a critical resource for this vector

This study presents a high-quality reference genome and a comprehensive multi-stage, tissue-specific transcriptome atlas of the Rocky Mountain wood tick (*Dermacentor andersoni*), providing critical resources to elucidate its blood-feeding biology and advance strategies for controlling the diseases it transmits.

Tompkin, J. E., Saelao, P., Kruczalak, J., Yeo, H., Olafson, P. U., Sim, S. B., Oyen, K., Kelley, M., Corpuz, R. L., Sch (…)2026-04-17

🧬 genomics

Whole-genome 3D architectural screen reveals modulators of brain DNA structure

This study introduces "Plate-C," a high-throughput platform that enabled the first large-scale chemical screen of whole-genome 3D architecture across thousands of samples, revealing diverse, pathway-specific modulators of DNA structure and validating their rapid, brain-wide impact in vivo.

Parasar, B., Raja Venkatesh, A., Perera, J., Sosnick, L., Moghadami, S., Seo, Y., Shi, J., Chan, L., Takenawa, S., Akiya (…)2026-04-17

🧬 genomics

Comparing DNA extraction methods for successful PacBio HiFi sequencing: a case study of the freshwater mussel Anodonta anatina (Bivalvia: Unionidae)

This study evaluates various DNA extraction methods for the freshwater mussel *Anodonta anatina*, revealing that while Nanobind and CTAB protocols are optimal for fresh tissue, the Omega Mollusc Kit unexpectedly outperforms them on flash-frozen samples, offering a practical and cost-effective solution for generating DNA suitable for PacBio HiFi sequencing.

Giulio, M., Lergster, U., Feulner, P. G. D., Weber, A. A.-T.2026-04-16

← Previous Next →