Recent trends in genome sequencing as of 2025 highlight a major shift toward long-read sequencing technologies such as PacBio HiFi and Oxford Nanopore, which offer high accuracy and the ability to resolve complex genomic regions. There's also a strong movement toward graph-based genome references, including the Human Pangenome Project, which better captures genetic diversity across populations. In clinical and research settings, we're seeing rapid growth in AI-integrated sequencing workflows, such as real-time on-device basecalling and species identification. Additionally, spatial genomics and in situ sequencing are gaining traction, allowing researchers to study gene expression within the 3D context of intact tissues. Finally, the declining cost of genome sequencing and national-scale initiatives, like newborn genomic screening in the UK, are bringing us closer to truly accessible, precision genomics for all.
Current trends in genome sequencing are focused on:
- Complete Assemblies: Using long-read technologies to create gapless, telomere-to-telomere reference genomes.
- Genetic Diversity: Developing pangenomes and superpangenomes to capture a wider range of genetic variation.
- Integrated 'Omics': Linking genomic data with transcriptomics, proteomics, and other fields to create a holistic biological picture.
- High-Resolution Analysis: Adopting single-cell and spatial genomics to analyse individual cells, revealing tissue heterogeneity and complex cellular interactions.
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