🧬 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.

Bayesian Estimation of Mosaic Loss of Chromosome Y from Bulk RNA Sequencing Data

This study introduces a Bayesian framework that successfully estimates mosaic loss of chromosome Y (LOY) from bulk male RNA-seq data by modeling reduced Y-linked gene expression, achieving strong correlation with DNA-based measurements for large LOY events while highlighting the method's limitations due to transcriptional confounding and its nature as a probabilistic rather than direct substitute for DNA-based assays.

Lin, J.-R., Zhang, Z.2026-05-23🧬 genomics

The aging genome exhibits organized vulnerability to somatic mutations

By analyzing over a million somatic mutations across thirteen human tissues, this study reveals that the aging genome exhibits "organized vulnerability" where critical, highly connected genes are systematically protected from mutations through transcription-coupled repair and selective filtering, suggesting that organismal decline is driven not by the total mutational burden but by the specific network locations where mutations accumulate.

Ehlert, J., Cutler, R., Spector, J., Gross, B., Levy, O., Vijg, J., Dong, X., Barabasi, A.-L.2026-05-22🧬 genomics

SnoRNA Expression and RNA 2'-O-Methylation in Drosophila melanogaster S2 Cells

This study establishes a comprehensive atlas of snoRNA expression and 2'-O-methylation sites in *Drosophila melanogaster* S2 cells using RibOxi-seq2, revealing widespread modifications in rRNAs, snRNAs, and mRNAs while identifying novel consensus sequences that may guide mRNA methylation despite the absence of canonical guiding snoRNAs.

Ye, X., Liu, Y., Olson, S., Zhan, L., Carmichael, G. G., Graveley, B.2026-05-22🧬 genomics

Telomere-to-telomere, accurate, and gapless genome assembly (TTAGGA) of the Korean Jindo dog with a single-contig Y chromosome

This study presents Jindo1-G-TTAGGA, the first complete, gapless, and haplotype-resolved canine reference genome that meets a stringent TTAGGA standard, featuring a single-contig Y chromosome that resolves approximately 79% of the full-length canine Y and significantly advances the understanding of canine structural variation and sex-chromosome evolution.

Choi, H., Kim, J.-S., Kwon, Y., Park, S., Jeon, S., Bhak, J., Shin, D., Choi, Y., An, K., Ryu, D.-Y., Paek, W. K., Park, D., Kim, J., Sinding, M.-H. S., Choe, Y., Hyun, B.-R., Lee, S.-k., Bhak, J.2026-05-20🧬 genomics

CDK12 and CDK13 suppress distinct intronic polyadenylation sites

This study demonstrates that CDK12 and CDK13 play distinct roles in suppressing intronic polyadenylation to maintain transcript integrity, and reveals that the resulting prematurely terminated transcripts are translationally competent, generating novel intronic peptides that could serve as tumor-specific neoantigens in CDK12/13-deficient cancers.

Hulver, M., Polevoda, A., Huang, K.-L., Wagner, E. J., Boutz, P. L.2026-05-19🧬 genomics

Building an Interoperable Rare Disease Multi-omic Resource: The GREGoR Data Model and Dataset

The GREGoR Consortium developed a modular, interoperable data model to standardize multi-omic and phenotypic data across diverse clinical sites, successfully harmonizing information from over 12,000 participants to enable large-scale rare disease research and cross-study analysis.

Heavner, B. D., Wheeler, M. M., Bengtsson, J. D., Carvalho, C. M. B., Cheung, W. A., Conomos, M. P., Delot, E. C., DiTroia, S., Ganesh, V. S., Gogarten, S. M., Grochowski, C. M., Jhangiani, S. N., Kin (…)2026-05-19🧬 genomics

Selecting genomes that matter: haplotype-based prioritization for iterative pangenome expansion

This paper introduces SelHap, a haplotype-based pipeline that prioritizes genomes for iterative pangenome expansion by explicitly targeting novel sequence content relative to an existing background, thereby maximizing the addition of non-redundant genetic information more effectively than current diversity-based strategies.

Marone, M. P., Chen, E., Himmelbach, A., Haberer, G., Spannagl, M., Stein, N., Mascher, M.2026-05-18🧬 genomics