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Bioinformatics & AI
Week of 4 August 2026
5 articles
Geno'X Veille — genox-veille.fr
Key takeaways this week
- ►Developmental and epileptic encephalopathy in adults — a structured aetiologic workup in 144 adults identifies a cause in 63.2% and changes management in 27.1%.
- ►Noncoding variants — scE2G, trained on more than 10,000 CRISPR-tested element-gene pairs, reaches state-of-the-art performance in linking an enhancer to its target gene from single-cell data.
- ►Exon skipping — analysis of 72,644 exons across 5,057 disease genes identifies antisense oligonucleotide targets covering 0.97% to 15.6% of listed disease-causing variants.
5 articles of 5
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Clinical pipeline
PubMedPhenotype-guided etiologic workup in a prospective cohort of 144 adults with developmental and epileptic encephalopathy.
Developmental and epileptic encephalopathy in adults
7
Clinical pipelineClinical pipeline
Epilepsia Open 2026· AugRead
Noncoding variant interpretation
PubMedMapping enhancer-gene regulatory interactions from single-cell data.
Noncoding variant interpretation
6
New toolBenchmark
Nat Genet 2026· AugRead
Inborn genetic diseases amenable to exon skipping
medRxivA scalable platform for exon-skipping antisense oligonucleotide therapy development for inborn genetic diseases
Inborn genetic diseases amenable to exon skipping
6
New tool
medRxiv 2026· JulRead
Long-read
medRxivSVkhor: a unified framework for structural variant integration across long-read, short-read, and optical genome mapping data
Structural variant genomic diagnosis
5
Long-readNew toolSV caller
medRxiv 2026· AugRead
Spatial tissue profiling
PubMedSequencing-free spatial profiling of post-transcriptional regulation in fresh tissues using nanoneedle arrays.
Spatial tissue profiling
5
New tool
Nat Biomed Eng 2026· JulRead
References and sources
- Developmental and epileptic encephalopathy in adults. Epilepsia Open 2026. PMID 42541364. Score 7/10. https://pubmed.ncbi.nlm.nih.gov/42541364/
- Noncoding variant interpretation. Nat Genet 2026. PMID 42547575. Score 6/10. https://pubmed.ncbi.nlm.nih.gov/42547575/
- Inborn genetic diseases amenable to exon skipping. medRxiv 2026. doi:10.64898/2026.07.29.26359175. Score 6/10. https://www.medrxiv.org/content/10.64898/2026.07.29.26359175v1
- Structural variant genomic diagnosis. medRxiv 2026. doi:10.64898/2026.07.30.26359319. Score 5/10. https://www.medrxiv.org/content/10.64898/2026.07.30.26359319v1
- Spatial tissue profiling. Nat Biomed Eng 2026. PMID 42521808. Score 5/10. https://pubmed.ncbi.nlm.nih.gov/42521808/
