Abstract. Transcriptomics is the study of RNA transcripts, the portion of the genome that is transcribed, in a specific cell, tissue, or organism. Transcri

Abstract. The interpretation of DNA variants enables personalized medicine through precise diagnosis and treatment selection. To address the challenges of

The respiratory microbiome, which comprises bacteria, fungi, and viruses, plays a crucial role in respiratory health and disease. However, its study is limited by the low microbial biomass in respiratory samples and the dominance of host RNA. Metatranscriptomics offers comprehensive insights into active microbial communities and their interactions with the host but requires optimized RNA extraction protocols for robust and unbiased analysis. This study evaluated two RNA extraction kits—one employing chemical lysis (CL) and another combining chemical and mechanical lysis (CML)—to determine their effectiveness for metatranscriptomic analysis of respiratory samples. The CML protocol significantly increased double-stranded DNA (dsDNA) library yields, leading to higher sequencing read counts for both sample types (p < 0.0001). The read length was unaffected by the lysis protocol for the BAL and NPS samples. Taxonomic profiling revealed that CML enhanced the detection of robust microorganisms, such as gram-positive bacteria and fungi, without compromising viral detection. The CML protocol demonstrated superior recovery of genetic material, particularly for fungi and gram-positive bacteria, making it better suited for comprehensive metatranscriptomic analyses. These findings underscore the need for tailored RNA extraction strategies on the basis of sample type and research objectives. Optimized metatranscriptomic protocols are pivotal for advancing our understanding of the respiratory microbiome and its role in health and disease.

Beyond commonly screened disorders, genomic-first ascertainment of genetic disorders remains underexplored. We developed a scalable framework for 2,701 additional rare genetic disorders, identifying p...

RNA sequencing has emerged as a powerful tool for Mendelian disorder diagnostics, but the optimized sequencing depth has not been determined. Using Ultra-high-depth RNA sequencing (up to 1 billion rea...

Recent advances in forensic genetics have improved the range, precision and reliability of forensic information&nbsp;obtainable from biological trace material. The author reviews how non-targeted and targeted&nbsp;omics approaches and&nbsp;methods are improving crime scene analyses being applied for the identification of perpetrators and their relatives or victims, the prediction of phenotypic traits, and the determination of trace characteristics.

With the US release of Rose Byrne’s anxiety-inducing motherhood spiral If I Had Legs I’d Kick You, writers relive their most uncomfortable movie watches

Kemi Badenoch’s attack on the arts and humanities isn’t just culturally short-sighted, it’s economically illiterate

With a fourth consecutive Mercury Prize nomination, the band share their philosophy of album making.

Researchers are calling for the conservation of teeny tiny organisms that normally get overlooked, and conservationists are listening.

China has positioned itself as the world’s clean tech export hub while the US — especially under President Donald Trump — has pitched itself as a global gas station. That’s set up a battle for energy export supremacy. It’s solar, wind and batteries vs. oil and gas.

The recent commentary by Manning et al highlights difficulties comparing results of gastrointestinal microbiome cohort studies.1 They demonstrate how methodological heterogeneity can substantially imp...

Abstract. Next-generation sequencing has greatly advanced genomics, enabling large-scale studies of population genetics and complex traits. Genomic DNA (gD

The power of short-read DNA sequencing in biodiversity research and evolutionary genomics is rapidly growing due to advances in technology and bioinformatics. Short-read sequencing offers powerful sol...

Background Long-read sequencing has revolutionised metagenomics through improved metagenome assembly, taxonomic classification and functional characterisation. Automation can enhance the throughput, reproducibility, and accuracy of library preparation. However, the validation of automated library preparation protocols remains undetermined for metagenomic workflows, which are particularly sensitive to methodological perturbation. Here, we compare long-read metagenomic sequencing of environmental samples through parallel manual and automated protocols. Results Although automated library preparation led to minor reduction in read and contig lengths, taxonomic classification rate and alpha diversity was slightly higher than manual libraries, including the detection of more rare taxa. Despite this, no significant difference in microbial community structure was identified between manual and automated libraries. Conclusions Despite minor differences in sequencing and classification metrics, automated and manual library preparation resulted in comparable characterization of environmental community metagenomes. These findings demonstrate the suitability of automation for high-throughput long-read metagenomics, with broad applicability to automated long-read sequencing for improved efficiency and reproducibility.

The Galaxy single-cell and spatial omics community (SPOC) brings together over 175 tools, 120+ training resources, and a global user community in a unified FAIR platform. By integrating leading suites...

Spatial omics has empowered the discovery of developmental and disease-associated molecular signatures, cell states and multicellular niches, as well as the evaluation of disease heterogeneity within and across organs. The authors review spatially resolved molecular changes across diseases and discuss the potential of spatial multi-omics for clinical applications, including the recent impact of artificial intelligence.

Genome-wide approaches have uncovered the vast microbial and viral diversity across ecosystems. This Review explores advances in metagenomics, single-cell sequencing and functional profiling to elucidate the evolution, biogeography and ecological dynamics of Earth’s microbiomes.