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Bioinformatics & AI
Week of 10 November 2026
6 articles
Geno'X Veille — genox-veille.fr
Key takeaways this week
- ►Short-read structural variants — across 14 callers, DRAGEN leads with a mean recall of 0.36; multi-caller ensembles sometimes beat any single tool.
- ►Tandem repeats on Nanopore — 7 genotypers compared: assembly concordance does not predict sensitivity to pathogenic expansions.
- ►MAVEs and predictors — combined, they reclassify over 90% of variants of uncertain significance in two reference datasets, across five hereditary cancer genes.
- ►Congenital heart disease — from the first echocardiogram, logistic regression ranks the correct genetic diagnosis in the top 3 with 0.758 balanced accuracy (preprint).
- ►SMART filtering — pathogenic or likely pathogenic variants in 4.6% of 153 negative cases, including deep-intronic variants confirmed by RNA (preprint).
6 articles of 6
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Structural variants
PubMedBenchmarking short-read germline structural variant calling highlights advantages of using ensembles of tools and small impact of graph genome alignment
Germline structural variants
6
Structural variantsBenchmarkSV caller
Genome Biol 2026· AugRead
Long-read
PubMedA comprehensive assessment of tandem repeat genotyping methods for Nanopore long-read genomes
Tandem repeat expansions
6
Long-readBenchmarkLong-read sequencing
Genome Biol 2026· AugRead
Pathogenicity prediction
PubMedCombining MAVEs and computational predictors improves variant classification across ancestries in hereditary cancer genes
Hereditary cancer predisposition
6
Pathogenicity predictionPathogenicity prediction
Genome Med 2026· OctRead
Language model / AI
PubMedArtificial Intelligence-Based Modeling to Aid in the Identification of Genetic Conditions in Infants with Congenital Heart Disease
Congenital heart disease
6
Language model / AINew tool
medRxiv 2026· OctRead
Clinical pipeline
medRxivA Framework for Variant Filtering to Improve Diagnostic Outcomes in Genome Sequencing
Undiagnosed rare genetic disorders
4
Clinical pipelineClinical pipeline
medRxiv 2026· NovRead
Long-read
PubMedLong-read RNA sequencing improves isoform and splicing outlier detection in whole blood from rare disease trios
Rare diseases
4
Long-readLong-read sequencingBenchmark
medRxiv 2026· AugRead
References and sources
- Germline structural variants. Genome Biol 2026. PMID 42983866. Score 6/10. https://pubmed.ncbi.nlm.nih.gov/42983866/
- Tandem repeat expansions. Genome Biol 2026. PMID 42983859. Score 6/10. https://pubmed.ncbi.nlm.nih.gov/42983859/
- Hereditary cancer predisposition. Genome Med 2026. PMID 42989408. Score 6/10. https://pubmed.ncbi.nlm.nih.gov/42989408/
- Congenital heart disease. medRxiv 2026. PMID 42999267. Score 6/10. https://pubmed.ncbi.nlm.nih.gov/42999267/
- Undiagnosed rare genetic disorders. medRxiv 2026. doi:10.64898/2026.11.07.26367371. Score 4/10. https://www.medrxiv.org/content/10.64898/2026.11.07.26367371v1
- Rare diseases. medRxiv 2026. PMID 42990561. Score 4/10. https://pubmed.ncbi.nlm.nih.gov/42990561/