Bioinformatics & AI

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Bioinformatics & AI

Week of 7 July 2026

11 articles

Geno'X Veille — genox-veille.fr

Key takeaways this week

►SeizeVar — beyond pathogenicity, a framework predicting the mechanism (gain/loss of function) of epilepsy variants.
►Targeted long-read — a single assay for the genomic + epigenomic landscape of inherited myopathies (+35% diagnoses).
►ClairS — first dedicated long-read somatic small-variant caller for tumor-normal pairs (open source).
►RankVar — ML prioritisation of causative variants, top-10 at 90% on a diagnostic cohort.
►KGRD — knowledge-graph-augmented reasoning for paediatric rare disease diagnosis.

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From Pathogenicity to Mechanism: A Variant Interpretation Framework for Monogenic Epilepsy.

Variant interpretation — monogenic epilepsy

Pathogenicity predictionNew tool

Clin Genet 2026· JulRead

Targeted long-read sequencing with adaptive sampling enables the integrated genomic and epigenomic profiling of imprinting disorders.

Imprinting disorder diagnostics (Beckwith-Wiedemann spectrum)

Long-readLong-read sequencingClinical pipeline

Sci Rep 2026· JulRead

Targeted long-read sequencing enables comprehensive analysis of the genetic and epigenetic landscape of inherited myopathies.

Inherited myopathy diagnostics (including FSHD/D4Z4)

Long-readLong-read sequencingClinical pipeline

Nat Commun 2026· JulRead

ClairS: a deep-learning method for long-read tumor-normal pair somatic small variant calling.

Somatic variant calling (tumor-normal pairs, long-read)

Long-readNew toolLong-read sequencing

Nat Methods 2026· JulRead

KGRD: a knowledge-graph-augmented automated reasoning framework for diagnosis and counselling of paediatric rare genetic disorders.

Diagnostic support for paediatric rare diseases

Clinical pipelineLLM appliedNew tool

NPJ Digit Med 2026· JulRead

RankVar: machine learning-based variant ranking and reinterpretation for rare genetic diseases.

Variant prioritisation — rare genetic diseases

Clinical pipelineNew toolPathogenicity prediction

Genome Med 2026· JulRead

asms: finding allele-specific methylation in human genomes without phasing.

Allele-specific methylation detection

Long-readNew toolLong-read sequencing

NAR Genom Bioinform 2026· JulRead

Efficient evidence-based genome annotation with EviAnn.

Evidence-based genome annotation

Algorithm benchmarkNew toolBenchmark

Nat Methods 2026· JulRead

Svirlpool: structural variant detection from long read sequencing by local assembly.

Structural variant detection (long-read, multi-sample)

Long-readSV callerLong-read sequencing

bioRxiv 2026· JunRead

Epigenetic Liquid Biopsy Enables Universal Mutation-Agnostic Molecular Surveillance for High-Risk Neuroblastoma.

Molecular surveillance of high-risk neuroblastoma

Long-readClinical pipeline

Clin Cancer Res 2026· JulRead

Standards and resources for the medical genome

Harmonizing standards and resources for the medical genome.

Standards and resources for the medical genome

Nature 2026· JulRead

References and sources

Variant interpretation — monogenic epilepsy. Clin Genet 2026. PMID 42384027. Score 10/10. https://pubmed.ncbi.nlm.nih.gov/42384027/
Imprinting disorder diagnostics (Beckwith-Wiedemann spectrum). Sci Rep 2026. PMID 42401671. Score 10/10. https://pubmed.ncbi.nlm.nih.gov/42401671/
Inherited myopathy diagnostics (including FSHD/D4Z4). Nat Commun 2026. PMID 42401548. Score 10/10. https://pubmed.ncbi.nlm.nih.gov/42401548/
Somatic variant calling (tumor-normal pairs, long-read). Nat Methods 2026. PMID 42387002. Score 9/10. https://pubmed.ncbi.nlm.nih.gov/42387002/
Diagnostic support for paediatric rare diseases. NPJ Digit Med 2026. PMID 42393263. Score 9/10. https://pubmed.ncbi.nlm.nih.gov/42393263/
Variant prioritisation — rare genetic diseases. Genome Med 2026. PMID 42401968. Score 9/10. https://pubmed.ncbi.nlm.nih.gov/42401968/
Allele-specific methylation detection. NAR Genom Bioinform 2026. PMID 42395864. Score 8/10. https://pubmed.ncbi.nlm.nih.gov/42395864/
Evidence-based genome annotation. Nat Methods 2026. PMID 42399474. Score 8/10. https://pubmed.ncbi.nlm.nih.gov/42399474/
Structural variant detection (long-read, multi-sample). bioRxiv 2026. doi:10.1101/2025.11.03.686231. Score 7/10. https://www.biorxiv.org/content/10.1101/2025.11.03.686231v3
Molecular surveillance of high-risk neuroblastoma. Clin Cancer Res 2026. PMID 42384765. Score 7/10. https://pubmed.ncbi.nlm.nih.gov/42384765/
Standards and resources for the medical genome. Nature 2026. PMID 42387168. Score 5/10. https://pubmed.ncbi.nlm.nih.gov/42387168/