Bioinformatics & AI

Week of 13 October 2026

5 articles

Geno'X Veille — genox-veille.fr

Key takeaways this week

►rWGS in paediatric oncology — turnaround time cut from 42 to 3 days, 95% of actionable variants detected versus 89% with standard testing.
►SBDS — PseudoRA resolves SBDSP1 pseudogene interference and increases Shwachman-Diamond syndrome diagnostic yield 1.7-fold.
►TBAS — long-read trio sequencing on a single flow cell, consumables cut to 32.2% of conventional cost, all five known diagnoses recovered.
►Missense spliceogenic variants — 2.7% of missense variants alter splicing, 57% of them called benign by AlphaMissense and REVEL.
►NanoExpansion — a single long-read assay to size repeat expansions and read their interruptions (132 participants).

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Cost-efficient long-read trio-barcoded adaptive sequencing improves rare disease diagnosis.

Unsolved rare diseases (trio analysis)

Long-readNew toolLong-read sequencing

Nat Commun 2026· SepRead

Clinical pipeline

Rapid Whole Genome Sequencing Enhances Pediatric Cancer Diagnosis.

Paediatric cancers (suspected or confirmed)

Clinical pipelineClinical pipeline

Nat Commun 2026· OctRead

PseudoRA: A Novel Pseudogene ReAligner for Detecting SBDS Variants in Shwachman-Diamond Syndrome.

Shwachman-Diamond syndrome

Clinical pipelineNew toolBenchmark

Ann Lab Med 2026· OctRead

Clinical pipeline

Investigating the pathogenicity of missense spliceogenic variants using whole-genome sequencing, RNA-sequencing, and proteomics data from population and clinical research cohorts

Mendelian disorders (missense variants disrupting splicing)

Clinical pipelinePathogenicity prediction

medRxiv 2026· OctRead

Nanopore sequencing combined with adaptive sampling and NanoExpansion enables accurate characterization of repeat expansion disorders.

Repeat expansion disorders (DM1, DM2, C9orf72-associated ALS, spinocerebellar ataxias, CANVAS)

Long-readNew toolLong-read sequencing

NAR Genom Bioinform 2026· OctRead

References and sources

Unsolved rare diseases (trio analysis). Nat Commun 2026. PMID 42838976. Score 7/10. https://pubmed.ncbi.nlm.nih.gov/42838976/
Paediatric cancers (suspected or confirmed). Nat Commun 2026. PMID 42838965. Score 7/10. https://pubmed.ncbi.nlm.nih.gov/42838965/
SBDS — Shwachman-Diamond syndrome. Ann Lab Med 2026. PMID 42844225. Score 6/10. https://pubmed.ncbi.nlm.nih.gov/42844225/
Repeat expansion disorders (DM1, DM2, C9orf72-associated ALS, spinocerebellar ataxias, CANVAS). NAR Genom Bioinform 2026. PMID 42840349. Score 5/10. https://pubmed.ncbi.nlm.nih.gov/42840349/
Mendelian disorders (missense variants disrupting splicing). medRxiv 2026. doi:10.64898/2026.10.09.26365070. Score 6/10. https://www.medrxiv.org/content/10.64898/2026.10.09.26365070v1