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Bioinformatics & AI
Week of 21 July 2026
3 articles
Geno'X Veille — genox-veille.fr
Key takeaways this week
- ►AAVC — automated ACMG classification at 94 % concordance with FDA classifications; one in ten individuals carries an actionable genotype.
- ►ACMG/AMP benchmark — tools are reliable for structured evidence, but expert curation remains essential for splicing and missense variants.
- ►long-read — a gene-agnostic algorithm reconstructs alleles (e.g. CYP2D6) from Nanopore amplicons, open-source code.
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Automated variant interpretation (ACMG classification)
PubMedAAVC: an automated framework for high-accuracy ACMG-based variant classification.
Automated variant interpretation (ACMG classification)
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New toolPathogenicity prediction
Genet Med 2026· JulRead
Long-read
PubMedA De Novo Algorithm for Allele Reconstruction from Oxford Nanopore Amplicon Reads, with Application to CYP2D6.
Allele reconstruction and diplotyping from long-read amplicon data
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Long-readNew toolLong-read sequencing
Bioinformatics 2026· JulRead
Algorithm benchmark
PubMedComparative evaluation of manual and automated ACMG/AMP variant classification: implications for clinical genetic practice.
Automated ACMG/AMP tools vs expert curation
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Algorithm benchmarkBenchmarkPathogenicity prediction
Sci Rep 2026· JulRead
References and sources
- Automated variant interpretation (ACMG classification). Genet Med 2026. PMID 42454476. Score 8/10. https://pubmed.ncbi.nlm.nih.gov/42454476/
- Automated ACMG/AMP tools vs expert curation. Sci Rep 2026. PMID 42457882. Score 5/10. https://pubmed.ncbi.nlm.nih.gov/42457882/
- Allele reconstruction and diplotyping from long-read amplicon data. Bioinformatics 2026. PMID 42477877. Score 7/10. https://pubmed.ncbi.nlm.nih.gov/42477877/
