Full archive
Bioinformatics & AI
Week of 6 October 2026
5 articles
Geno'X Veille — genox-veille.fr
Key takeaways this week
- ►NanoDel — open-source long-read pipeline for large-scale mitochondrial DNA deletions, detected without a priori information.
- ►OGM — 13.2 kb somatic deletion of DEPDC5 (about 20% VAF) in brain tissue, missed by short-read exome sequencing.
- ►FSHD — D4Z4 repeat size, haplotype and methylation in a single Nanopore assay (3 patients, 1 trio).
- ►Restriction-circles — structural variant genotyping by short-read WGS, proof of concept in one DMD patient.
5 articles of 5
Sort
Long-read
PubMed"NanoDel": identification of large-scale mitochondrial DNA deletions using long-read sequencing.
Mitochondrial disease (large-scale mitochondrial DNA deletions)
6
Long-readNew toolLong-read sequencing
Bioinformatics 2026· OctRead
DEPDC5
PubMedOptical genome mapping identifies clinically relevant somatic structural variation in epilepsy-affected brain tissue.
Lesional epilepsy (cortical malformations)
5
Structural variants
Genome Res 2026· OctRead
Long-read
PubMedIntegrated genetic and epigenetic diagnosis of facioscapulohumeral muscular dystrophy using Oxford Nanopore long-read sequencing.
Facioscapulohumeral muscular dystrophy
5
Long-readLong-read sequencingClinical pipeline
J Hum Genet 2026· OctRead
DMD
PubMedNovel Strategy for Structural Variant Genotyping by Short-Read Genomic Sequencing From Restriction-Circles: Experimental and Bioinformatics Proof-of-Concept.
Structural variants in Duchenne muscular dystrophy (proof of concept)
4
Structural variantsNew toolSV caller
Hum Mutat 2026· OctRead
HLA typing annotation (pharmacogenomics, autoimmune disease, population frequencies)
PubMedHLAnte: A Python command-line interface for unified HLA genotype annotation with integrated pharmacogenomic, disease, and population evidence.
HLA typing annotation (pharmacogenomics, autoimmune disease, population frequencies)
4
New tool
Hum Immunol 2026· AugRead
References and sources
- Mitochondrial disease (large-scale mitochondrial DNA deletions). Bioinformatics 2026. PMID 42745550. Score 6/10. https://pubmed.ncbi.nlm.nih.gov/42745550/
- DEPDC5 — Lesional epilepsy (cortical malformations). Genome Res 2026. PMID 42823194. Score 5/10. https://pubmed.ncbi.nlm.nih.gov/42823194/
- Facioscapulohumeral muscular dystrophy. J Hum Genet 2026. PMID 42830351. Score 5/10. https://pubmed.ncbi.nlm.nih.gov/42830351/
- DMD — Structural variants in Duchenne muscular dystrophy (proof of concept). Hum Mutat 2026. PMID 42824964. Score 4/10. https://pubmed.ncbi.nlm.nih.gov/42824964/
- HLA typing annotation (pharmacogenomics, autoimmune disease, population frequencies). Hum Immunol 2026. PMID 42641421. Score 4/10. https://pubmed.ncbi.nlm.nih.gov/42641421/