Bioinformatics & AI

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Bioinformatics & AI

Week of 28 July 2026

6 articles

Geno'X Veille — genox-veille.fr

Key takeaways this week

►KCNQ1 — classifiers predict seven electrophysiology and trafficking metrics and separate channel dysfunction from mistrafficking, complementing AlphaMissense.
►Splicing — reproducible benchmark on 27,733 measured variants: Pangolin leads (AUROC 0.888), but 19% of disrupting variants are missed by all five tools, mostly inside exons.
►long-read — across 128 newborn families, every variant reported by short-read testing is recovered by Nanopore and PacBio, but structural variant breakpoints diverge.
►rWGS — an electronic health record algorithm identifies newborns needing genetic evaluation early (ROC AUC 0.849), cutting mean time from 44 to 29 days.

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Classification models for KCNQ1 variants distinguish functional and trafficking effects to enhance pathogenicity interpretation.

Congenital long QT syndrome

New toolPathogenicity prediction

Proc Natl Acad Sci U S A 2026· JulRead

Algorithm benchmark

A Reproducible MFASS Benchmark of Splice-Disruption Predictors Reveals a Shared Exon-Interior Blind Spot

Prediction of variant effects on splicing

Algorithm benchmarkBenchmarkPathogenicity prediction

bioRxiv 2026· JulRead

Missense variant classification in intrinsically disordered regions

Enhancing missense variant classification in predicted intrinsically disordered regions.

Missense variant classification in intrinsically disordered regions

New toolPathogenicity prediction

PLoS One 2026· JulRead

Benchmarking long-read variant sensitivity across ONT and PacBio platforms using known clinically reported variants in a cohort of critically ill newborns.

Genomic diagnosis in neonatal intensive care

Long-readBenchmarkLong-read sequencing

medRxiv 2026· JulRead

Reference bias in preventive genome sequencing

Beyond the linear genome: how reference bias threatens preventive medicine and geroscience.

Reference bias in preventive genome sequencing

Clinical pipeline

Geroscience 2026· JulRead

Triage for rapid genome sequencing in neonatal intensive care

NeoGx: Machine-Recommended Rapid Genome Sequencing for Neonates

Triage for rapid genome sequencing in neonatal intensive care

New toolClinical pipeline

medRxiv 2026· JulRead

References and sources

KCNQ1 — Congenital long QT syndrome. Proc Natl Acad Sci U S A 2026. PMID 42479828. Score 9/10. https://pubmed.ncbi.nlm.nih.gov/42479828/
Prediction of variant effects on splicing. bioRxiv 2026. doi:10.64898/2026.07.21.739871. Score 7/10. https://www.biorxiv.org/content/10.64898/2026.07.21.739871v1
Missense variant classification in intrinsically disordered regions. PLoS One 2026. PMID 42507643. Score 6/10. https://pubmed.ncbi.nlm.nih.gov/42507643/
Genomic diagnosis in neonatal intensive care. medRxiv 2026. PMID 42465955. Score 6/10. https://pubmed.ncbi.nlm.nih.gov/42465955/
Reference bias in preventive genome sequencing. Geroscience 2026. PMID 42501271. Score 6/10. https://pubmed.ncbi.nlm.nih.gov/42501271/
Triage for rapid genome sequencing in neonatal intensive care. medRxiv 2026. doi:10.1101/2024.06.24.24309403. Score 6/10. https://www.medrxiv.org/content/10.1101/2024.06.24.24309403v2