Bioinformatics & AI

Week of 22 September 2026

9 articles

Geno'X Veille — genox-veille.fr

Key takeaways this week

►Pangenome — F1 score 0.86 versus 0 to 0.57 for variants of at least 20 bp on a cardiomyopathy panel.
►dicast — 20% more candidate pathogenic deletions than consensus approaches, from short-read data.
►Electronic health records — more than a year of median lead time over the first diagnostic code, across 3 million records.
►STXBP1 — a gene-calibrated predictor, tested against functional assays and publicly deployed.
►Cas9-targeted nanopore — 27 repeat expansion genes analysed on R10 flow cells.

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Structural variants

Pangenomes aid accurate detection of large insertions and deletions from targeted sequencing: the case of cardiomyopathies.

Cardiomyopathies — large variant detection on gene panels

Structural variantsSV callerBenchmark

Genome Med 2026· AugRead

Structural variants

dicast: a machine learning method for accurate structural variant detection from short-read sequencing data.

Structural variant detection from short-read sequencing

Structural variantsSV callerNew tool

Genome Biol 2026· SepRead

Clinical pipeline

Early identification of rare disease using deep phenotyping of electronic health records

Rare disease — early identification from electronic health records

Clinical pipelineClinical pipeline

medRxiv 2026· SepRead

Gene-specific machine learning model EpiPred identifies likely pathogenic variants in the epilepsy-related gene STXBP1.

STXBP1-related developmental and epileptic encephalopathies

Pathogenicity predictionPathogenicity predictionNew tool

J Clin Invest 2026· SepRead

Parallel Analysis of Repeat Expansions: An Updated Clinical Nanopore Cas9-Targeted Sequencing Workflow for Nanopore R10 Flow Cells.

Repeat expansions — hereditary ataxias and neuromuscular disorders

Long-readLong-read sequencingClinical pipeline

J Mol Diagn 2026· SepRead

Language model / AI

Genolator enables protein function interpretation using a multimodal large language model fusing genomic and structural interpretation with natural language interaction.

Protein function interpretation

Language model / AILLM appliedNew tool

Genome Biol 2026· SepRead

The GPCRVP score reliably predicts the impact of GLP1R human variants on receptor function.

Type 2 diabetes and obesity — GLP-1 receptor variants

Pathogenicity predictionPathogenicity predictionNew tool

Diabetologia 2026· SepRead

Nanopore long-read sequencing facilitates accurate diagnosis of KMT2B-related dystonia.

KMT2B-related dystonia

Long-readLong-read sequencingClinical pipeline

Clin Epigenetics 2026· SepRead

Disease-associated variants in phase-separating proteins

DisPhaseDB 2.0: Improved interpretation of disease-associated variants in liquid-liquid phase separation proteins with agent-accessible querying.

Disease-associated variants in phase-separating proteins

New toolLLM applied

Protein Sci 2026· SepRead

References and sources

Cardiomyopathies — large variant detection on gene panels. Genome Med 2026. PMID 42723105. Score 9/10. https://pubmed.ncbi.nlm.nih.gov/42723105/
Structural variant detection from short-read sequencing. Genome Biol 2026. PMID 42754892. Score 8/10. https://pubmed.ncbi.nlm.nih.gov/42754892/
Rare disease — early identification from electronic health records. medRxiv 2026. doi:10.64898/2026.09.11.26362811. Score 7/10. https://www.medrxiv.org/content/10.64898/2026.09.11.26362811v1
STXBP1 — STXBP1-related developmental and epileptic encephalopathies. J Clin Invest 2026. PMID 42752354. Score 6/10. https://pubmed.ncbi.nlm.nih.gov/42752354/
Repeat expansions — hereditary ataxias and neuromuscular disorders. J Mol Diagn 2026. PMID 42744283. Score 6/10. https://pubmed.ncbi.nlm.nih.gov/42744283/
Protein function interpretation. Genome Biol 2026. PMID 42750043. Score 5/10. https://pubmed.ncbi.nlm.nih.gov/42750043/
GLP1R — Type 2 diabetes and obesity — GLP-1 receptor variants. Diabetologia 2026. PMID 42752967. Score 5/10. https://pubmed.ncbi.nlm.nih.gov/42752967/
KMT2B — KMT2B-related dystonia. Clin Epigenetics 2026. PMID 42754922. Score 5/10. https://pubmed.ncbi.nlm.nih.gov/42754922/
Disease-associated variants in phase-separating proteins. Protein Sci 2026. PMID 42742059. Score 5/10. https://pubmed.ncbi.nlm.nih.gov/42742059/

15 September 2026