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Bioinformatics & AI
Week of 3 June 2026
6 articles
Geno'X Veille — genox-veille.fr
Key takeaways this week
- ►ClinGen VCEP — gene-specific criteria significantly reclassify VUS in ACMG SF3.3 genes compared to generic criteria.
- ►TESSERACT — new CNV predictor using multi-track image representation, better reproducing expert decisions than numerical approaches.
- ►Nanopore — real-time post-transplant chimerism monitoring applicable in urgent clinical settings.
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Variant classification — impact of ClinGen VCEP criteria specifications on diagnostic interpretation
PubMed★ Top pick
Evaluating the Impact of ClinGen Variant Curation Expert Panel Criteria Specifications on Variant Interpretation across Multiple Genes.
Variant classification — impact of ClinGen VCEP criteria specifications on diagnostic interpretation
9
/10
BenchmarkPathogenicity prediction
J Mol Diagn 2026· JunRead
Long-read
PubMedHybrid untargeted short-read and targeted long-read RNA sequencing facilitates genotype-phenotype associations at single-cell resolution.
Hybrid short-read/long-read RNA-seq pipeline — genotype-phenotype associations at single-cell resolution
8
/10
Long-readLong-read sequencingNew tool
Genome Biol 2026· JunRead
Alzheimer's disease
Autosomique dominantPubMedIdentification of genetic modifiers of autosomal dominant Alzheimer's disease: a genome-wide association study.
Autosomal dominant Alzheimer's disease (PSEN1/PSEN2/APP) — genetic modifiers
8
/10
Benchmark
Lancet Neurol 2026· JunRead
Long-read
PubMedThird-Generation Nanopore Sequencing for Post-Transplant Chimerism Monitoring.
Post-hematopoietic stem cell transplantation chimerism monitoring — third-generation Nanopore sequencing
7
/10
Long-readLong-read sequencingClinical pipeline
HLA 2026· JunRead
CNV pathogenicity prediction — deep learning model with image-based representation
bioRxivVision-Based Genomic Model for Copy Number Variant Pathogenicity Prediction.
CNV pathogenicity prediction — deep learning model with image-based representation
6
/10
New toolPathogenicity prediction
bioRxiv 2026· MayRead
Long-read
bioRxivPersonalized reference genome-based pipeline reveals comprehensive haplotype-resolved views of cancer genomes.
Cancer genome analysis — pipeline based on personalized haplotype-resolved reference genome
6
/10
Long-readNew toolLong-read sequencing
bioRxiv 2026· MayRead
References and sources
- Variant classification — impact of ClinGen VCEP criteria specifications on diagnostic interpretation. J Mol Diagn 2026. PMID 41997480. Score 9/10. https://pubmed.ncbi.nlm.nih.gov/41997480/
- Hybrid short-read/long-read RNA-seq pipeline — genotype-phenotype associations at single-cell resolution. Genome Biol 2026. PMID 42219495. Score 8/10. https://pubmed.ncbi.nlm.nih.gov/42219495/
- Post-hematopoietic stem cell transplantation chimerism monitoring — third-generation Nanopore sequencing. HLA 2026. PMID 42207493. Score 7/10. https://pubmed.ncbi.nlm.nih.gov/42207493/
- Alzheimer — Autosomal dominant Alzheimer's disease (PSEN1/PSEN2/APP) — genetic modifiers. Lancet Neurol 2026. PMID 42127933. Score 8/10. https://pubmed.ncbi.nlm.nih.gov/42127933/
- CNV pathogenicity prediction — deep learning model with image-based representation. bioRxiv 2026. doi:10.64898/2026.05.21.726953. Score 6/10. https://www.biorxiv.org/content/10.64898/2026.05.21.726953
- Cancer genome analysis — pipeline based on personalized haplotype-resolved reference genome. bioRxiv 2026. doi:10.64898/2026.05.28.728591. Score 6/10. https://www.biorxiv.org/content/10.64898/2026.05.28.728591