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Bioinformatics & AI
Week of 11 August 2026
10 articles
Geno'X Veille — genox-veille.fr
Key takeaways this week
- ►Diploid HG002 benchmark — 701.4 Mb of autosomal sequence and 216.8 Mb of sex chromosomes become assessable, and de novo assembly resolves 2% to 7% more sequence than reference-based variant calling.
- ►JAG1 — calibrating multiplexed assay data into ACMG evidence weights upgraded 6 of 29 variants of uncertain significance (21%) to likely pathogenic or pathogenic.
- ►RNUopathies — first guidance for classifying variants in small nuclear RNA genes, built on a de novo mutation rate roughly 50-fold higher than intergenic sequence.
- ►Optical genome mapping — in 51 children with B-ALL, OGM uncovered complex rearrangements missed by standard methods in 15% of cases and changed risk stratification in 10%.
- ►Long-read in rare disease — 3 of 24 families unsolved after short-read sequencing received a structural variant diagnosis, all three retrospectively recoverable from the short-read data.
10 articles of 10
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Algorithm benchmark
PubMed★ Top pick
⭐ À la une
A complete diploid human genome benchmark for personalized genomics.
Personal genomics and diploid reference
9
Algorithm benchmarkBenchmark
Cell 2026· AugRead
RNUopathies and variant classification in snRNA genes
medRxivGuidance for clinical variant classification in genes for spliceosomal small nuclear RNAs.
RNUopathies and variant classification in snRNA genes
7
Clinical pipelineNew tool
medRxiv 2026· AugRead
Pathogenicity prediction for missense and synonymous variants
PubMedSIMLINK Enables Accurate Variant Pathogenicity Prediction through Modeling the Gene-Variant-Feature Association Structure.
Pathogenicity prediction for missense and synonymous variants
7
New toolPathogenicity prediction
Bioinformatics 2026· AugRead
JAG1
Autosomal dominantPubMedLikelihood-based calibration improves the clinical utility of JAG1 functional data for variant classification.
Alagille syndrome
7
Pathogenicity prediction
Am J Hum Genet 2026· JulRead
Clinical pipeline
PubMedOptical genome mapping enhanced by refined variant interpretation in pediatric acute lymphoblastic leukemia.
Paediatric B-cell acute lymphoblastic leukaemia
6
Clinical pipelineClinical pipelineSV caller
J Pathol 2026· AugRead
Long-read
PubMedDetecting pathogenic structural variation in families with undiagnosed rare disease in a national genome project.
Rare disease unsolved after short-read sequencing
6
Long-readLong-read sequencingSV caller
Eur J Hum Genet 2026· AugRead
Clinical pipeline
PubMedWhole genome sequencing in cerebral palsy: a UK paediatric pilot study.
Cerebral palsy in children
5
Clinical pipelineClinical pipeline
Lancet Reg Health Eur 2026· AugRead
Clinical pipeline
PubMedDisoPatho: A Cross-View Feature-Adaptive Interaction Encoding Framework for Predicting Disease-Associated Variants in Intrinsically Disordered Regions.
Disease-associated variants in intrinsically disordered regions
5
Clinical pipelineNew toolPathogenicity prediction
J Chem Inf Model 2026· JulRead
Clinical pipeline
bioRxivSIEVE: Sparse Interpretable Exome Variant Explainer.
Variant prioritisation in exome case-control studies
4
Clinical pipelineNew tool
bioRxiv 2026· AugRead
Non-coding germline risk of lung cancer
bioRxivPGViS: Personal Genome Variant interpretation Score for lung cancer genomes.
Non-coding germline risk of lung cancer
4
New toolLLM applied
bioRxiv 2026· AugRead
References and sources
- Personal genomics and diploid reference. Cell 2026. PMID 42561913. Score 9/10. https://pubmed.ncbi.nlm.nih.gov/42561913/
- Paediatric B-cell acute lymphoblastic leukaemia. J Pathol 2026. PMID 42557824. Score 6/10. https://pubmed.ncbi.nlm.nih.gov/42557824/
- Rare disease unsolved after short-read sequencing. Eur J Hum Genet 2026. PMID 42557338. Score 6/10. https://pubmed.ncbi.nlm.nih.gov/42557338/
- RNUopathies and variant classification in snRNA genes. medRxiv 2026. doi:10.64898/2026.08.03.26359558. Score 7/10. https://www.medrxiv.org/content/10.64898/2026.08.03.26359558v1
- Pathogenicity prediction for missense and synonymous variants. Bioinformatics 2026. PMID 42574509. Score 7/10. https://pubmed.ncbi.nlm.nih.gov/42574509/
- Cerebral palsy in children. Lancet Reg Health Eur 2026. PMID 42571358. Score 5/10. https://pubmed.ncbi.nlm.nih.gov/42571358/
- JAG1 — Alagille syndrome. Am J Hum Genet 2026. PMID 42442366. Score 7/10. https://pubmed.ncbi.nlm.nih.gov/42442366/
- Variant prioritisation in exome case-control studies. bioRxiv 2026. doi:10.64898/2026.08.01.742212. Score 4/10. https://www.biorxiv.org/content/10.64898/2026.08.01.742212v1
- Disease-associated variants in intrinsically disordered regions. J Chem Inf Model 2026. PMID 42503799. Score 5/10. https://pubmed.ncbi.nlm.nih.gov/42503799/
- Non-coding germline risk of lung cancer. bioRxiv 2026. doi:10.64898/2026.08.01.742250. Score 4/10. https://www.biorxiv.org/content/10.64898/2026.08.01.742250v1
