Bioinformatics & AI

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Bioinformatics & AI

Week of 23 June 2026

9 articles

Geno'X Veille — genox-veille.fr

Key takeaways this week

►SpliceSelectNet — hierarchical Transformer with 100 kb window: deep-intronic variants have nowhere to hide.
►GrassSV — unified detection of all SV types in short-read WGS: one tool, benchmarked on GIAB.
►MAJIQ-CLIN — diagnostic RNA-Seq for Mendelian diseases: splicing aberrations at the forefront.

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Clinical pipeline

GrassSV - hybrid method to detect structural variants in high throughput DNA-seq data

Unified structural variant (SV) detection in short-read WGS

Clinical pipelineSV callerBenchmark

PLoS Comput Biol 2026· JunRead

Splicing prediction — detection of deep-intronic pathogenic variants

SpliceSelectNet: a hierarchical Transformer-based deep learning model for splice site prediction

Splicing prediction — detection of deep-intronic pathogenic variants

Pathogenicity predictionNew tool

Nucleic Acids Res 2026· JunRead

Clinical pipeline

MAJIQ-CLIN: A novel tool to help identify Mendelian disease-causing variants from RNA-Seq data

Undiagnosed Mendelian diseases — RNA-Seq analysis

Clinical pipelineNew toolClinical pipeline

Genet Med 2026· JunRead

Clinical pipeline

Clinical Utility of Exome Sequencing: Post-Exome Testing Decision Changes in the Management of Children with Suspected Rare Genetic Disease

Rare pediatric genetic diseases — clinical utility of exome sequencing

Clinical pipelineClinical pipelineBenchmark

Genet Med 2026· JunRead

Channelopathies — functional classification of missense variants

Functional effect predictions for ion channel missense variants using a protein language model

Channelopathies — functional classification of missense variants

Pathogenicity predictionNew tool

J Hum Genet 2026· JunRead

Algorithm benchmark

Tackling non-canonical splicing in arrhythmogenic cardiomyopathy to reduce the uncertain significance variants burden

Arrhythmogenic cardiomyopathy — non-canonical splicing variants and VUS

Algorithm benchmarkPathogenicity predictionClinical pipeline

J Transl Med 2026· JunRead

A zero-parameter first-principles gate framework for full-length TP53 missense variant interpretation

Classification of *TP53* missense variants — first-principles approach

Pathogenicity predictionNew tool

PLoS Comput Biol 2026· JunRead

A trio-based long-read sequencing workflow identifies a pathogenic transposable element insertion in a previously undiagnosed patient

Undiagnosed genetic disease — transposable element insertion detected by trio long-read sequencing

Long-readLong-read sequencingSV caller

J Hum Genet 2026· JunRead

Nanopore-based haplotype-resolved X-chromosome inactivation analysis for clinical severity assessment in X-linked disorders: an AIFM1 family study with proof-of-concept application to a mosaic PDHA1 carrier

X-linked disorders — X-chromosome inactivation analysis by Nanopore sequencing

Long-readLong-read sequencingClinical pipeline

HGG Adv 2026· JunRead

References and sources

Unified structural variant (SV) detection in short-read WGS. PLoS Comput Biol 2026. PMID 42330012. Score 10/10. https://pubmed.ncbi.nlm.nih.gov/42330012/
Splicing prediction — detection of deep-intronic pathogenic variants. Nucleic Acids Res 2026. PMID 42328788. Score 10/10. https://pubmed.ncbi.nlm.nih.gov/42328788/
Undiagnosed Mendelian diseases — RNA-Seq analysis. Genet Med 2026. PMID 42267532. Score 9/10. https://pubmed.ncbi.nlm.nih.gov/42267532/
Rare pediatric genetic diseases — clinical utility of exome sequencing. Genet Med 2026. PMID 42273873. Score 9/10. https://pubmed.ncbi.nlm.nih.gov/42273873/
Channelopathies — functional classification of missense variants. J Hum Genet 2026. PMID 42332060. Score 9/10. https://pubmed.ncbi.nlm.nih.gov/42332060/
Arrhythmogenic cardiomyopathy — non-canonical splicing variants and VUS. J Transl Med 2026. PMID 42323666. Score 9/10. https://pubmed.ncbi.nlm.nih.gov/42323666/
TP53 — Classification of *TP53* missense variants — first-principles approach. PLoS Comput Biol 2026. PMID 42275441. Score 8/10. https://pubmed.ncbi.nlm.nih.gov/42275441/
GPC3 — Undiagnosed genetic disease — transposable element insertion detected by trio long-read sequencing. J Hum Genet 2026. PMID 42332059. Score 8/10. https://pubmed.ncbi.nlm.nih.gov/42332059/
AIFM1 — X-linked disorders — X-chromosome inactivation analysis by Nanopore sequencing. HGG Adv 2026. PMID 42265917. Score 8/10. https://pubmed.ncbi.nlm.nih.gov/42265917/