🧬 Category

genomics

238 papers

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.

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 Khdeir, S., Uziely, B., Peretz, T., Kaduri, L., Hubert, A., Cohen, J. E., Salah (…)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., Serre, D.2026-04-18🧬 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., Scheffler, B., Geib, S. M., Childers, A., Chen, X., Weirauch, M. T., Dergousoff, S. (…)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., Akiyama, T., Sianto, O., Uenaka, T., Hadjipanayis, A., Wernig, M., Gitler, A. D., Tan (…)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🧬 genomics

Complete Telomere-to-Telomere Assembly of the Y Chromosome in the Chinese Quartet

This study presents the first complete, gapless telomere-to-telomere assembly of the Y chromosome (CQ-chrY) for the father of the Chinese Quartet, integrating multi-platform sequencing data to resolve complex repetitive regions and provide a high-quality paternal haplotype resource for advancing East Asian genomic standards.

Wang, B., Wan, S., Zhang, P., Zhang, Y., Wang, X., Dong, L., Ye, K., Yang, X.2026-04-16🧬 genomics

CSI-SSU: Phylogenetic contamination screening of genomic datasets, demonstrated on the Protist 10,000 Genomes (P10K) database

The authors present CSI-SSU, a scalable command-line tool that utilizes SSU phylogenetic placement and bacterial BUSCO searches to screen genomic assemblies for contamination and validate taxonomic identities, as demonstrated by its application to 2,960 assemblies from the Protist 10,000 Genomes (P10K) initiative.

Porfirio-Sousa, A. L., Jones, R. E., Brown, M. W., Lahr, D. J. G., Tice, A. K.2026-04-15🧬 genomics