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Bioinformatics & AI
Week of 27 May 2026
5 articles
Geno'X Veille — genox-veille.fr
Key takeaways this week
- ►Decima — deep learning model trained on 22 million cells to interpret noncoding variants at single-cell resolution.
- ►StringTie3 — total RNA-seq assembler with improved long-read module to resolve nascent and mature transcripts.
- ►OPUS-PLLM — generative LLM matching top specialized models for protein function prediction from sequence.
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Noncoding variant interpretation / transcriptional regulation
PubMedDecoding sequence determinants of gene expression in diverse cellular and disease states.
Noncoding variant interpretation / transcriptional regulation
8
/10
Pathogenicity predictionNew tool
Nat Methods 2026· MayRead
Long-read
PubMedStringTie3 improves total RNA-seq assembly by resolving nascent and mature transcripts.
Diagnostic RNA-seq assembly / splicing isoforms
7
/10
Long-readLong-read sequencingClinical pipeline
Nat Methods 2026· MayRead
Protein function prediction / functional genomics
PubMedAdvancing generative large language models toward discriminative performance in protein function prediction.
Protein function prediction / functional genomics
7
/10
LLM appliedNew tool
Genome Biol 2026· MayRead
Long-read
PubMedAccuracy of nanopore sequencing technology for rapid diagnosis of tuberculous mediastinal and hilar lymphadenopathy.
Mediastinal tuberculosis — Nanopore sequencing diagnosis
6
/10
Long-readLong-read sequencingClinical pipeline
BMJ Open 2026· MayRead
Automated oncogenic variant interpretation
PubMedClassifying Clinical Evidence Levels of Cancer Variants in Biomedical Literature Using Machine Learning.
Automated oncogenic variant interpretation
5
/10
LLM appliedBenchmark
Stud Health Technol Inform 2026· MayRead
References and sources
- Noncoding variant interpretation / transcriptional regulation. Nat Methods 2026. PMID 42185539. Score 8/10. https://pubmed.ncbi.nlm.nih.gov/42185539/
- Diagnostic RNA-seq assembly / splicing isoforms. Nat Methods 2026. PMID 42157005. Score 7/10. https://pubmed.ncbi.nlm.nih.gov/42157005/
- Protein function prediction / functional genomics. Genome Biol 2026. PMID 42169056. Score 7/10. https://pubmed.ncbi.nlm.nih.gov/42169056/
- Mediastinal tuberculosis — Nanopore sequencing diagnosis. BMJ Open 2026. PMID 42150839. Score 6/10. https://pubmed.ncbi.nlm.nih.gov/42150839/
- Automated oncogenic variant interpretation. Stud Health Technol Inform 2026. PMID 42174974. Score 5/10. https://pubmed.ncbi.nlm.nih.gov/42174974/