Full archive
Bioinformatics & AI
Week of 8 September 2026
6 articles
Geno'X Veille — genox-veille.fr
Key takeaways this week
- ►Polymorphic inversions — a catalogue of 612 candidate inversions genotyped in 54 individuals with ultra-long ONT reads, tripling the number of inverted-repeat-mediated polymorphic inversions studied in detail.
- ►SuPreMo-Akita — de novo structural variants ranked by predicted disruption of promoter–regulatory element contacts, validated in isogenic excitatory neurons.
- ►Owl — microsatellite instability measured from PacBio long reads across more than 140,000 genome-wide markers, rather than a homopolymer panel.
- ►ONT methylation callers — below 5× estimates are unstable, and above 10× the gain in accuracy costs evaluable CpG sites.
6 articles of 6
Sort
Long-read
PubMedResolving missing human polymorphic inversions and other complex variants from ultra-long read data
Balanced structural variation of the human genome
8
Long-readNew toolLong-read sequencing
Genome Res 2026· SepRead
Autism spectrum disorder
De novoPubMedDe novo structural variants in autism spectrum disorder disrupt distal regulatory interactions of neuronal genes
Autism spectrum disorder
7
New toolPathogenicity prediction
Genome Res 2026· AugRead
Long-read
PubMedHunting for microsatellite instability in long-read data with Owl
Microsatellite instability and mismatch repair deficiency
7
Long-readNew toolLong-read sequencing
PLoS Comput Biol 2026· SepRead
Long-read
PubMedECHO: a nanopore sequencing-based workflow for (epi)genetic profiling of the human repeatome
Human repeatome analysis
6
Long-readNew toolLong-read sequencing
Bioinformatics 2026· SepRead
Long-read
PubMedCoverage-aware evaluation of Oxford nanopore methylation callers using whole-genome data
DNA methylation calling from nanopore sequencing
6
Long-readBenchmarkLong-read sequencing
Sci Justice 2026· JulRead
Long-read
medRxivCell-type-resolved somatic variant discovery from bulk long-read sequencing
Tissue somatic mosaicism
5
Long-readNew toolLong-read sequencing
medRxiv 2026· SepRead
References and sources
- Balanced structural variation of the human genome. Genome Res 2026. PMID 42680553. Score 8/10. https://pubmed.ncbi.nlm.nih.gov/42680553/
- Autism spectrum disorder. Genome Res 2026. PMID 42680562. Score 7/10. https://pubmed.ncbi.nlm.nih.gov/42680562/
- Human repeatome analysis. Bioinformatics 2026. PMID 42678358. Score 6/10. https://pubmed.ncbi.nlm.nih.gov/42678358/
- Microsatellite instability and mismatch repair deficiency. PLoS Comput Biol 2026. PMID 42685296. Score 7/10. https://pubmed.ncbi.nlm.nih.gov/42685296/
- DNA methylation calling from nanopore sequencing. Sci Justice 2026. PMID 42680462. Score 6/10. https://pubmed.ncbi.nlm.nih.gov/42680462/
- Tissue somatic mosaicism. medRxiv 2026. doi:10.64898/2026.09.01.26361966. Score 5/10. https://www.medrxiv.org/content/10.64898/2026.09.01.26361966v1