Week of 20 May 2026
Literature review — Bioinformatics & AI
3
curated articles
0
score ≥ 8/10
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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Articles of the week
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Algorithm benchmark
PubMedAnalyzing the performance of deep learning splice prediction algorithms.
Splicing variants (deep intronic)
7
/10
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
/10
Charcot-Marie-ToothBenchmark
Journal of Neurology Neurosurgery and Psychiatry 2026· MayRead
GPIHBP1
Autosomique récessifPubMedResolving 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
/10
Long-readSV callerClinical pipeline
Clinica Chimica Acta 2026· MayRead