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Bioinformatics & AI

Week of 1 September 2026

8 articles

Geno'X Veille — genox-veille.fr

Key takeaways this week

►FuncVEP — missense variant predictor trained on functional rather than clinical data, outperforming 48 existing tools, with 210 new gene-phenotype associations.
►P-KNN — joint calibration of multiple pathogenicity predictors, with no need to pre-commit to a single tool.
►100,000 Genomes Project — ancestry-stratified allele frequency filters remove 24.3% of prioritised variants in the East African group with no loss of diagnostic sensitivity.
►Pangenome — public callset of 614,522 structural variants from long-read assemblies, applied to 44 unsolved probands.
►nCATS-STRiker — 32.4% of diagnoses among already investigated ataxia patients, across 56 short tandem repeat loci in a single nanopore test.
►BIN1 — intronic AGG expansion detected by long-read sequencing in 13.4% of pathologically confirmed multiple system atrophy cases.

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Clinical pipeline

Prediction of human missense variant effects from functional evidence.

Missense variant interpretation — inborn errors of immunity

Clinical pipelineNew toolPathogenicity prediction

Nat Genet 2026· AugRead

Clinical pipeline

P-KNN: joint calibration of multiple pathogenicity prediction tools streamlines variant classification.

Variant classification — Mendelian disease

Clinical pipelineNew toolPathogenicity prediction

Genet Med 2026· AugRead

Clinical pipeline

Equity in genome sequencing for rare disease diagnosis: a cross-sectional analysis of data from the UK 100,000 Genomes Project.

Variant prioritisation and ancestry equity — rare disease diagnosis

Clinical pipelineClinical pipelineBenchmark

EBioMedicine 2026· AugRead

A high-resolution human pangenome structural variant resource for improved disease association

Structural variants — unsolved rare disease

Long-readSV callerLong-read sequencing

medRxiv 2026· AugRead

Optimized Cas9-Enriched Nanopore Sequencing and Analysis Workflow for Clinical Diagnosis of Repeat Expansion Disorders.

Cerebellar ataxia — repeat expansion disorders

Long-readLong-read sequencingNew tool

Adv Sci (Weinh) 2026· AugRead

Long-read transcriptome analysis using IsoRanker for identifying pathogenic variants in Mendelian conditions.

Non-coding variants — unsolved Mendelian conditions

Long-readLong-read sequencingNew tool

Am J Hum Genet 2026· AugRead

AGG repeat expansion and aggregation of BIN1 in multiple system atrophy.

Multiple system atrophy

Long-readLong-read sequencing

Brain 2026· AugRead

From targeted SCN1A analysis to whole exome sequencing: clinical utility and novel genetic findings in a Hungarian paediatric epilepsy cohort.

Paediatric-onset epilepsy

Clinical pipelineClinical pipeline

Hum Genet 2026· AugRead

References and sources

Missense variant interpretation — inborn errors of immunity. Nat Genet 2026. PMID 42649388. Score 9/10. https://pubmed.ncbi.nlm.nih.gov/42649388/
Variant classification — Mendelian disease. Genet Med 2026. PMID 42644305. Score 9/10. https://pubmed.ncbi.nlm.nih.gov/42644305/
Variant prioritisation and ancestry equity — rare disease diagnosis. EBioMedicine 2026. PMID 42648159. Score 8/10. https://pubmed.ncbi.nlm.nih.gov/42648159/
Structural variants — unsolved rare disease. medRxiv 2026. doi:10.64898/2026.08.21.26361050. Score 8/10. https://www.medrxiv.org/content/10.64898/2026.08.21.26361050v1
Cerebellar ataxia — repeat expansion disorders. Adv Sci (Weinh) 2026. PMID 42667167. Score 7/10. https://pubmed.ncbi.nlm.nih.gov/42667167/
Non-coding variants — unsolved Mendelian conditions. Am J Hum Genet 2026. PMID 42641602. Score 7/10. https://pubmed.ncbi.nlm.nih.gov/42641602/
BIN1 — Multiple system atrophy. Brain 2026. PMID 42663379. Score 7/10. https://pubmed.ncbi.nlm.nih.gov/42663379/
SCN1A — Paediatric-onset epilepsy. Hum Genet 2026. PMID 42667410. Score 5/10. https://pubmed.ncbi.nlm.nih.gov/42667410/