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Bioinformatics & AI
Week of 18 August 2026
6 articles
Geno'X Veille — genox-veille.fr
Key takeaways this week
- ►Long-read nanopore in hemoglobinopathies — a single run covers HBA1, HBA2, HBB and G6PD: 100% concordance across 63 previously genotyped DNA samples, 39 distinct variants classified, HBA1/HBA2 homology resolved.
- ►Ultra-low-pass liquid biopsy — a variant-calling-free transformer reaches an AUC of 0.930 across 17 cancer types and 0.929 on external validation (sensitivity 0.78, specificity 0.92), with no patient numbers and no positive predictive value reported.
- ►Cross-ancestry polygenic scores — Mondrian Cross-Conformal Prediction does not improve performance but flags the individuals for whom no reliable prediction is possible (testing: 1,145 South Asian, 749 African participants).
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Cancer detection from cell-free DNA (liquid biopsy)
PubMedGeneralizable cancer detection from ultra-low-pass WGS via deep contextual modeling of cfDNA sequences.
Cancer detection from cell-free DNA (liquid biopsy)
7
New toolBenchmark
Mol Biomed 2026· AugRead
Type 2 diabetes — cardiovascular and renal complications
JournalImproving the reliability of polygenic risk score-based prediction for cardiovascular and renal complications across ancestries in type 2 diabetes using Mondrian Cross-Conformal Prediction
Type 2 diabetes — cardiovascular and renal complications
7
New toolBenchmark
PLOS Comput Bio 2026· AugRead
Complex traits — gene-level association mapping
JournalIBAS: Interaction-bridged association studies discovering novel genes underlying complex traits
Complex traits — gene-level association mapping
7
New toolBenchmark
PLOS Comput Bio 2026· AugRead
Promoter prediction at single-nucleotide resolution
JournalEvoSNR-Prom: Predicting promoters at single-nucleotide resolution with label-aware transfer learning of the pretrained EVO model
Promoter prediction at single-nucleotide resolution
5
New toolLLM applied
PLOS Comput Bio 2026· AugRead
Identification of rare cell populations in single-cell transcriptomics
JournalRareCapsNet: An explainable capsule network enables robust discovery of rare cell populations from large-scale single-cell transcriptomics
Identification of rare cell populations in single-cell transcriptomics
5
New toolBenchmark
PLOS Comput Bio 2026· AugRead
Long-read
PubMedSimultaneous detection of thalassemia, hemoglobinopathies, and G6PD variants using long-read nanopore sequencing: genetic complexity and heterogeneity in Thailand.
Thalassemias, hemoglobinopathies and G6PD deficiency
5
Long-readLong-read sequencingClinical pipeline
PeerJ 2026· AugRead
References and sources
- Cancer detection from cell-free DNA (liquid biopsy). Mol Biomed 2026. PMID 42584731. Score 7/10. https://pubmed.ncbi.nlm.nih.gov/42584731/
- Type 2 diabetes — cardiovascular and renal complications. PLOS Comput Bio 2026. Journal. Score 7/10. https://journals.plos.org/ploscompbiol/article?id=10.1371/journal.pcbi.1014670
- Complex traits — gene-level association mapping. PLOS Comput Bio 2026. Journal. Score 7/10. https://journals.plos.org/ploscompbiol/article?id=10.1371/journal.pcbi.1014640
- Promoter prediction at single-nucleotide resolution. PLOS Comput Bio 2026. Journal. Score 5/10. https://journals.plos.org/ploscompbiol/article?id=10.1371/journal.pcbi.1014626
- Identification of rare cell populations in single-cell transcriptomics. PLOS Comput Bio 2026. Journal. Score 5/10. https://journals.plos.org/ploscompbiol/article?id=10.1371/journal.pcbi.1013962
- Thalassemias, hemoglobinopathies and G6PD deficiency. PeerJ 2026. PMID 42602612. Score 5/10. https://pubmed.ncbi.nlm.nih.gov/42602612/
