Integrative multi-omics analyses outperform single modalities but face reproducibility and validity challenges in clinical implementation.
- 3 cites
Genomics and Rare Diseases
Moving in Nature, Nature Genetics.
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Co-Scientist, an AI system with multi-agent architecture, generates novel biomedical hypotheses, leading to validated drug candidates and therapies for acute myeloid leukemia.
- 1 opens in JClub
- Open access
Latest in Genomics and Rare Diseases
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Embeddings from genome and protein language models enable high-resolution, alignment-free insights into genomics and proteomics, surpassing traditional methods.
Cooperative action of two conserved Glu/Asp residues is essential for early ATP hydrolysis in GHKL ATPases, with mutations impairing activity in human disease variants.
- Open access
Massively parallel reporter assay reveals 918 regulatory variants linked to human cortical structure, with over half showing allelic effects and some being condition-dependent.
- Open access
Decentralized clinical trials can improve patient access and reduce costs but face significant logistical and regulatory challenges, as demonstrated in hematology research.
Protein-informed analysis reveals significantly mutated regions in cancer genomes, advancing understanding beyond traditional gene and hotspot approaches.
Fine-tuned Longevity-LLMs with 0.6B-9B parameters outperform larger models on aging biology tasks in the LongevityBench benchmark.
- Open access
- 1 cites
Population data reveal the historical origin of a rare genetic variant linked to increased lung cancer risk.
Dicast achieves 20% higher detection of candidate pathogenic deletions than consensus methods in short-read sequencing data.
- Open access
- 1 cites
Genolator, a multimodal large language model, achieves over 365,000 question-answer pairs to accurately interpret protein functions from genomic and structural data.
- Open access
PureTarget PacBio sequencing reveals extensive genetic mosaicism with up to 18 on-target and 11 off-target variants in individual zebrafish, highlighting widespread editing complexity.
- Open access
Non-genetic amino acid substitutions significantly expand the human proteome, with 13,910 variants identified across 29 tissues, revealing a new layer of proteome diversity.
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