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Bioinformatics & AI
Week of 13 May 2026
4 articles
Geno'X Veille — genox-veille.fr
Key takeaways this week
- ►Optical genome mapping integrated with short-read — improved detection of complex SVs in genetic diagnosis.
- ►AVITI sequencing — STR/homopolymer benchmark on 4-generation CEPH pedigree: real mutation rates for clinical evaluation.
- ►PathOrchestra — digital pathology foundation model predicting driver mutations from histological images.
- ►Microhomology and tandem duplications — conserved CNV formation mechanism with implications for diagnostic callers.
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Benchmark of STR and homopolymer detection in clinical sequencing — real mutation rates in a four-generation pedigree
PubMed★ Top pick
AVITI sequencing of a four-generation CEPH/Utah pedigree confirms low mutation rates at homopolymers and short tandem repeats.
Benchmark of STR and homopolymer detection in clinical sequencing — real mutation rates in a four-generation pedigree
9
/10
BenchmarkClinical pipeline
Genome Biol 2026· MayRead
Microhomology-mediated tandem duplication mechanism — clinical relevance for pathogenic CNVs
PubMedMicrohomology-mediated tandem duplication is a conserved mechanism of genomic variation with relevance to human disease.
Microhomology-mediated tandem duplication mechanism — clinical relevance for pathogenic CNVs
8
/10
SV callerNew tool
PNAS 2026· MayRead
Structural variants (SV) in diagnostic genetics — integrative OGM + short-read approach
PubMedIntegrative approach for delineating structural variants using optical genome mapping and short-read sequencing.
Structural variants (SV) in diagnostic genetics — integrative OGM + short-read approach
8
/10
SV callerClinical pipeline
Mol Biol Rep 2026· MayRead
Rare neurogenetic disorders in Moroccan families — exome diagnosis and expanded genetic spectrum
PubMedExpanding the genetic spectrum of neurogenetic disorders in Moroccan families by exome sequencing.
Rare neurogenetic disorders in Moroccan families — exome diagnosis and expanded genetic spectrum
7
/10
Clinical pipelineBenchmark
Mol Biol Rep 2026· MayRead
References and sources
- Benchmark of STR and homopolymer detection in clinical sequencing — real mutation rates in a four-generation pedigree. Genome Biol 2026. PMID 42104479. Score 9/10. https://pubmed.ncbi.nlm.nih.gov/42104479/
- Microhomology-mediated tandem duplication mechanism — clinical relevance for pathogenic CNVs. PNAS 2026. PMID 42085162. Score 8/10. https://pubmed.ncbi.nlm.nih.gov/42085162/
- Rare neurogenetic disorders in Moroccan families — exome diagnosis and expanded genetic spectrum. Mol Biol Rep 2026. PMID 42113100. Score 7/10. https://pubmed.ncbi.nlm.nih.gov/42113100/
- Structural variants (SV) in diagnostic genetics — integrative OGM + short-read approach. Mol Biol Rep 2026. PMID 42113087. Score 8/10. https://pubmed.ncbi.nlm.nih.gov/42113087/