🧬 Category

genomics

309 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.

🧬 genomics

The Human Pleiotropic Map of GWAS Associations and Therapeutic Implications

This study systematically analyzes over 100,000 GWAS to demonstrate that while protein-altering variant support strongly predicts therapeutic success, combining this evidence with intermediate levels of gene pleiotropy (affecting 2–5 traits) optimizes drug discovery by balancing efficacy with organism-level safety, thereby identifying a high-probability profile already validated by numerous approved therapies.

Tsepilov, Y. A., Suveges, D., Considine, D., Szyszkowski, S., Ge, X. J., Lopez Santiago, I., Rusina, P., Alegbe, T., Ho (…)2026-05-01
🧬 genomics

HERVs as building blocks of RNA regulatory architecture in the human genome

This study establishes that human endogenous retroviruses (HERVs) serve as pervasive, family-specific building blocks of RNA regulatory architecture by embedding distinct RNA-binding protein motifs, contributing to thousands of long non-coding RNAs, and forming unique antisense configurations that influence post-transcriptional gene regulation and immune responses.

Montserrat-Ayuso, T., Pujol, A., Esteve-Codina, A.2026-05-01
🧬 genomics

MethylBench: A comprehensive benchmark of DNA methylation profiling methods across diverse sequencing platforms

MethylBench provides a comprehensive cross-platform benchmark of six DNA methylation profiling technologies using GIAB and human samples, demonstrating that while sequencing-based methods offer superior genome-wide coverage and long-read platforms enable phasing, all methods consistently identify robust epigenetic hotspots in promoters and introns when coverage and annotation redundancies are properly addressed.

Laufer, L., Gasparoni, G., Hentrich, T., Sofan, L., Admard, J., Buena-Atienza, E., Pogoda, M., Ossowski, S., Casadei, N. (…)2026-04-30
🧬 genomics

Local ancestry inference identifies robust evidence of selection in Neolithic Europe

By benchmarking six local ancestry inference methods on Neolithic European genomes, this study demonstrates that while multi-method validation can robustly identify selection signals in genes related to pigmentation and metabolism, inferred ancestry patterns and selection signatures are highly sensitive to the specific method used, particularly in complex regions like the HLA.

Mies, G., Mathieson, I.2026-04-28
🧬 genomics

Genome-wide association study of morphometric and metabolic characteristics in the European populations of the sugar kelp Saccharina latissima

This study presents the first genome-wide association study (GWAS) of the sugar kelp *Saccharina latissima*, identifying both major-effect loci and polygenic traits for morphological and metabolic characteristics to provide a genomic foundation for future aquaculture breeding programs.

MAUGER, S., AVIA, K., JAUGEON, L., RUGGERI, P., NEHR, Z., SALIA, O. I., COUDRET, J., GOUHIER, E., BAUD, A., LOISEL, S. (…)2026-04-28
🧬 genomics

Genomic basis of rapid urban evolution revealed by the subgenome-resolved genome of octoploid Oxalis corniculata

By integrating subgenome-resolved genome assemblies with large-scale citizen science data, this study reveals that rapid urban adaptation in the octoploid *Oxalis corniculata* is driven by a repeat-length polymorphism in a MYB transcription factor that modulates leaf color and heat tolerance.

Iimura, H., Sato, M. P., Aoyagi, Y. B., Kikuchi, S., Tachiki, Y., Uchida, K., Katsuhara, K. R., Hiraoka, K., Fukano, Y. (…)2026-04-27
🧬 genomics

A comprehensive DNA methylation atlas for the Chinese population through nanopore long-read sequencing of 106 individuals

This study presents a comprehensive, haplotype-resolved DNA methylation atlas for 106 individuals across 19 Chinese provinces using nanopore long-read sequencing, revealing that genomic structural variants and habitat altitude are key determinants of methylation patterns and identifying specific altitude-responsive genes.

Li, Y., Jiang, T., Qian, L., Wang, Y.2026-04-23
🧬 genomics

A new phased assembly of the Antarctic spiny plunderfish provides novel insights into the evolution of the notothenioid radiation.

This study presents a new phased genome assembly of the Antarctic spiny plunderfish (*Harpagifer antarcticus*) and comparative analyses revealing that lineage-specific bursts of transposon activity, segmental duplications of antifreeze glycoprotein genes, and diversifying selection in antioxidant and proteostasis pathways were key drivers of notothenioid adaptation to extreme cold.

Martelossi, J., Krasheninnikova, K., Denton, A., Wood, J. M. D., Mathers, T., Durbin, R., Fong, N., Bentley, D. L., Clar (…)2026-04-23