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Bioinformatics & AI
Week of 25 August 2026
8 articles
Geno'X Veille — genox-veille.fr
Key takeaways this week
- ►Kidney transcriptome: 22% of the variants retained across the Alport spectrum are splice-altering.
- ►Icelandic pangenome: 6.17% more variants and pathogenic variants recovered in low-mappability regions.
- ►Deep learning splicing models degrade precisely on non-reference sequences.
- ►TandemTwister — 1.2 million tandem repeat loci genotyped in 15 minutes.
8 articles of 8
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COL4A3/A4/A5
PubMed★ Top pick
Kidney Transcriptome Sequencing Improves Molecular Diagnosis and Reveals Splicing Complexity Across the Alport Spectrum.
Alport spectrum (hereditary glomerular basement membrane disorders)
9
Clinical pipelineClinical pipeline
Kidney Int Rep 2026· AugRead
Long-read
PubMed★ Top pick
An Icelandic pangenome reference.
Early-onset Parkinson disease and homocystinuria (variants located in low-mappability regions)
9
Long-readNew toolLong-read sequencing
Nature 2026· AugRead
Not disease-specific (interpretation of splicing variants)
PubMedInterpretable distillation reveals that deep learning splicing models suffer from pervasive confounders and blind spots.
Not disease-specific (interpretation of splicing variants)
7
Pathogenicity predictionBenchmark
Genome Biol 2026· AugRead
Long-read
PubMedTandemTwister: scalable genotyping and advanced visualization of tandem repeats.
Tandem repeat disorders (neurodegenerative and neurodevelopmental disorders)
7
Long-readNew toolBenchmark
NAR Genom Bioinform 2026· AugRead
Clinical pipeline
PubMedScaling up Genomics: A Mainstream Model of Care in Nephrology.
Genetic kidney disease
7
Clinical pipelineClinical pipeline
Clin J Am Soc Nephrol 2026· AugRead
Rare autosomal trisomies detected prenatally
PubMedRare Autosomal Trisomies Detected by Noninvasive Prenatal Testing: Performance, Outcomes, and Exploratory Analysis of the Theoretical Mosaicism Ratio.
Rare autosomal trisomies detected prenatally
7
Prenat Diagn 2026· AugRead
Long-read
PubMedAnalysing long-read CRISPR experiments with CRISPRLungo.
Analysis of genome editing experiments
6
Long-readNew toolLong-read sequencing
Nat Biomed Eng 2026· AugRead
Hereditary cancer
PubMedA machine learning framework for predictive interpretation of variants of uncertain significance in hereditary cancer.
Hereditary cancer
4
Pathogenicity prediction
Front Syst Biol 2026· AugRead
References and sources
- COL4A3/A4/A5 — Alport spectrum (hereditary glomerular basement membrane disorders). Kidney Int Rep 2026. PMID 42614610. Score 9/10. https://pubmed.ncbi.nlm.nih.gov/42614610/
- Early-onset Parkinson disease and homocystinuria (variants located in low-mappability regions). Nature 2026. PMID 42618781. Score 9/10. https://pubmed.ncbi.nlm.nih.gov/42618781/
- Not disease-specific (interpretation of splicing variants). Genome Biol 2026. PMID 42625183. Score 7/10. https://pubmed.ncbi.nlm.nih.gov/42625183/
- Tandem repeat disorders (neurodegenerative and neurodevelopmental disorders). NAR Genom Bioinform 2026. PMID 42609617. Score 7/10. https://pubmed.ncbi.nlm.nih.gov/42609617/
- Analysis of genome editing experiments. Nat Biomed Eng 2026. PMID 42624993. Score 6/10. https://pubmed.ncbi.nlm.nih.gov/42624993/
- Hereditary cancer. Front Syst Biol 2026. PMID 42614771. Score 4/10. https://pubmed.ncbi.nlm.nih.gov/42614771/
- Genetic kidney disease. Clin J Am Soc Nephrol 2026. PMID 42606900. Score 7/10. https://pubmed.ncbi.nlm.nih.gov/42606900/
- Rare autosomal trisomies detected prenatally. Prenat Diagn 2026. PMID 42631554. Score 7/10. https://pubmed.ncbi.nlm.nih.gov/42631554/
