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Bioinformatics & AI
Week of 20 May 2026
3 articles
Geno'X Veille — genox-veille.fr
Key takeaways this week
- ►Open-source SpliceAI — benchmark on 6 datasets: free implementations are equivalent to the original SpliceAI, but standard thresholds miss deep intronic variants by a 10-fold margin.
- ►GPIHBP1 adaptive sampling — first resolution of a deletion in a non-PCR-amplifiable VNTR region: nanopore adaptive sampling enriches the locus to 88× coverage to enable diagnosis.
- ►NOTCH2NLC/LRP12 CGG expansions — absent in 560 unsolved European CMT patients from the 100K Genomes Project: these expansions are not a significant cause of CMT in Northern European populations.
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Algorithm benchmark
PubMedAnalyzing the performance of deep learning splice prediction algorithms.
Splicing variants (deep intronic)
7
Algorithm benchmarkBenchmarkPathogenicity prediction
PLoS ONE 2026· MayRead
Charcot-Marie-Tooth
PubMedCGG repeat expansions in Charcot-Marie-Tooth disease: insights from the 100 000 Genomes Project.
Unsolved Charcot-Marie-Tooth disease
7
Charcot-Marie-ToothBenchmark
Journal of Neurology Neurosurgery and Psychiatry 2026· MayRead
GPIHBP1
PubMedResolving a complex GPIHBP1 exons 3-4 deletion adjacent to low-complexity repeats using adaptive sampling long-read sequencing in familial chylomicronaemia.
Familial chylomicronaemia syndrome (GPIHBP1)
6
Long-readSV callerClinical pipeline
Clinica Chimica Acta 2026· MayRead
References and sources
- Splicing variants (deep intronic). PLoS ONE 2026. PMID 42127163. Score 7/10. https://pubmed.ncbi.nlm.nih.gov/42127163/
- GPIHBP1 — Familial chylomicronaemia syndrome (GPIHBP1). Clinica Chimica Acta 2026. PMID 41812787. Score 6/10. https://pubmed.ncbi.nlm.nih.gov/41812787/
- Unsolved Charcot-Marie-Tooth disease. Journal of Neurology Neurosurgery and Psychiatry 2026. PMID 40645757. Score 7/10. https://pubmed.ncbi.nlm.nih.gov/40645757/
