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SeizeVar

PubMed

★ Top pick

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

Interprétation des variants — épilepsie monogénique

Prédiction pathogénicitéNouvel outil

Clin Genet 2026· juil.Lire

Long-read

PubMed

★ Top pick

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

Diagnostic des maladies de l'empreinte (spectre Beckwith-Wiedemann)

Long-readLong-read sequencingPipeline clinique

Sci Rep 2026· juil.Lire

Long-read

PubMed

★ Top pick

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

Diagnostic des myopathies héréditaires (dont FSHD/D4Z4)

Long-readLong-read sequencingPipeline clinique

Nat Commun 2026· juil.Lire

AI-CURA, an automated LLM workflow for high-accuracy genetic variant classification

Classification automatisée des variants génétiques par LLM selon ACMG/AMP/ClinGen

Pipeline cliniqueLLM appliquéNouvel outil

Sci Transl Med 2026· juinLire

Long-read

PubMed

★ Top pick

Systematic evaluation of long-read and short-read sequencing in neurological disorders diagnosis: a direct comparison study of 310 patients

Maladies neurologiques génétiques — comparaison directe WGS long-read vs short-read

Long-readLong-read sequencingBenchmark

NPJ Genom Med 2026· juinLire

Long-read

PubMed

★ Top pick

Rapid and Reproducible Karyotyping with Long Read Sequencing in AML Patients

Leucémie aiguë myéloïde — caryotypage rapide par long-read

Long-readLong-read sequencingPipeline clinique

Blood Adv 2026· juinLire

Pipeline clinique

PubMed

★ Top pick

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

Détection unifiée des variants structuraux (SV) en WGS court-read

Pipeline cliniqueSV callerBenchmark

PLoS Comput Biol 2026· juinLire

Prédiction de l'épissage — détection de variants pathogènes introniques profonds

PubMed

★ Top pick

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

Prédiction de l'épissage — détection de variants pathogènes introniques profonds

Prédiction pathogénicitéNouvel outil

Nucleic Acids Res 2026· juinLire

Benchmark algorithmique

PubMed

★ Top pick

pAnno: a comprehensive, precise, and fast proteogenomic workflow for the discovery of novel coding regions.

Annotation protéogénomique

Benchmark algorithmiqueNouvel outilPipeline clinique

Genome Biol 2026· juinLire

IA médicale clinique

PubMed

★ Top pick

From raw audio to structure: an agent-based pipeline that boosts medical LLM performance.

IA médicale clinique

LLM appliquéPipeline clinique

NPJ Digit Med 2026· juinLire

Benchmark algorithmique

PubMed

★ Top pick

⭐ À la une

A complete diploid human genome benchmark for personalized genomics.

Génomique personnelle et référence diploïde

Benchmark algorithmiqueBenchmark

Cell 2026· aoûtLire

KCNQ1

PubMed

★ Top pick

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

Syndrome du QT long congénital

Nouvel outilPrédiction pathogénicité

Proc Natl Acad Sci U S A 2026· juil.Lire

Lymphome B non hodgkinien

PubMed

★ Top pick

Self-explaining artificial intelligence for the classification of B cell non-Hodgkin lymphoma: A diagnostic decision support study.

Lymphome B non hodgkinien

Nouvel outilBenchmark

PLoS Med 2026· juil.Lire

Pipeline clinique

PubMed

★ Top pick

Copy number variant analysis by exome sequencing is an effective approach to optimize diagnostic yield for developmental disorders-the DDD-Africa study.

Troubles du neurodéveloppement

Pipeline cliniquePipeline cliniqueSV caller

Eur J Hum Genet 2026· juil.Lire

ClairS

PubMed

★ Top pick

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

Détection de variants somatiques (paires tumeur/normal, long-read)

Long-readNouvel outilLong-read sequencing

Nat Methods 2026· juil.Lire

KGRD

PubMed

★ Top pick

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

Aide au diagnostic des maladies rares pédiatriques

Pipeline cliniqueLLM appliquéNouvel outil

NPJ Digit Med 2026· juil.Lire

RankVar

PubMed

★ Top pick

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

Priorisation de variants — maladies génétiques rares

Pipeline cliniqueNouvel outilPrédiction pathogénicité

Genome Med 2026· juil.Lire

Pipeline clinique

PubMed

★ Top pick

Validation of an integrated metagenomic pipeline combining optimized wet-lab processing and tiered reporting for CSF pathogen detection

Infections du système nerveux central — détection des pathogènes dans le LCR par métagénomique

Pipeline cliniquePipeline cliniqueBenchmark

Microbiol Spectr 2026· juinLire

Pipeline clinique

PubMed

★ Top pick

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

Maladies mendéliennes non diagnostiquées — analyse RNA-Seq

Pipeline cliniqueNouvel outilPipeline clinique

Genet Med 2026· juinLire

Pipeline clinique

PubMed

★ Top pick

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

Maladies génétiques rares pédiatriques — utilité clinique du séquençage d'exome

Pipeline cliniquePipeline cliniqueBenchmark

Genet Med 2026· juinLire

Canalopathies — classification fonctionnelle des variants faux-sens

PubMed

★ Top pick

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

Canalopathies — classification fonctionnelle des variants faux-sens

Prédiction pathogénicitéNouvel outil

J Hum Genet 2026· juinLire

Benchmark algorithmique

PubMed

★ Top pick

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

Cardiomyopathie arythmogène — variants d'épissage non canoniques et VUS

Benchmark algorithmiquePrédiction pathogénicitéPipeline clinique

J Transl Med 2026· juinLire

Benchmark algorithmique

bioRxiv

★ Top pick

A fine-tuned genomic language model captures nucleotide-level information overlooked by missense variant impact predictors.

Interprétation des variants missense / prédiction de pathogénicité

Benchmark algorithmiqueNouvel outilPrédiction pathogénicité

bioRxiv 2026· juinLire

Benchmark algorithmique

PubMed

★ Top pick

Benchmarking Q40 sequencing for sensitive and efficient detection of rare genomic variants.

Détection de variants rares / qualité de séquençage

Benchmark algorithmiqueBenchmarkPipeline clinique

Genome Biol 2026· juinLire

Annotation épigénomique / interprétation des variants non-codants

PubMed

★ Top pick

Pan-cell type continuous chromatin state annotation of all epigenomes from the International Human Epigenome Consortium.

Annotation épigénomique / interprétation des variants non-codants

Nouvel outilPrédiction pathogénicité

Genome Biol 2026· juinLire

Pipeline clinique

PubMed

★ Top pick

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

Maladies mendéliennes / variants d'épissage non détectés par ES/GS

Pipeline cliniqueNouvel outilPipeline clinique

Genet Med 2026· juinLire

Long-read

PubMed

★ Top pick

HiFi sequencing accurately identifies clinically relevant variants in paralogous genes.

Variants dans les gènes paralogues

Long-readLong-read sequencingPipeline clinique

Am J Hum Genet 2026· juinLire

Maladies mendéliennes — interprétation de variants

PubMed

★ Top pick

MARRVEL-MCP: An agentic interface for Mendelian disease discovery via tool-augmented context engineering.

Maladies mendéliennes — interprétation de variants

LLM appliquéPipeline clinique

Am J Hum Genet 2026· juinLire

Pipeline clinique

PubMed

★ Top pick

G.AI: an AI-driven platform for phenotype standardization, variant interpretation and structured clinical reporting in rare disease genomic diagnosis.

Maladies rares — diagnostic génomique

Pipeline cliniqueLLM appliquéPipeline clinique

J Transl Med 2026· juinLire

Pipeline clinique

PubMed

★ Top pick

Targeted reflex RNA sequencing for enhanced variant classification on exome and genome sequencing improves patient outcomes.

Variants d'épissage — reclassification par RNA-seq

Pipeline cliniquePipeline cliniquePrédiction pathogénicité

NPJ Genomic Med 2026· juinLire

Pipeline clinique

PubMed

★ Top pick

The genetic etiology of spontaneous abortion: insights from chromosomal microarray analysis and whole-exome sequencing.

Fausse couche spontanée — étiologie génétique

Pipeline cliniquePipeline cliniqueBenchmark

Sci Rep 2026· juinLire

Benchmark algorithmique

PubMed

★ Top pick

Benchmarking reveals the superiority of nucleic acid foundation models in predicting lncRNA coding potential.

Prédiction du potentiel codant des lncRNA

Benchmark algorithmiqueBenchmarkPrédiction pathogénicité

Genome Biol 2026· juinLire

Classification des variants — impact des critères VCEP ClinGen sur l'interprétation diagnostique

PubMed

★ Top pick

Evaluating the Impact of ClinGen Variant Curation Expert Panel Criteria Specifications on Variant Interpretation across Multiple Genes.

Classification des variants — impact des critères VCEP ClinGen sur l'interprétation diagnostique

BenchmarkPrédiction pathogénicité

J Mol Diagn 2026· juinLire

Benchmark de détection des STR et homopolymères pathogènes en séquençage clinique — taux de mutation réels sur pedigree 4 générations

PubMed

★ Top pick

AVITI sequencing of a four-generation CEPH/Utah pedigree confirms low mutation rates at homopolymers and short tandem repeats.

Benchmark de détection des STR et homopolymères pathogènes en séquençage clinique — taux de mutation réels sur pedigree 4 générations

BenchmarkPipeline clinique

Genome Biol 2026· maiLire

Maladies rares — diagnostic par système IA agentique

PubMed

★ Top pick

⭐ À la une

AAVC: an automated framework for high-accuracy ACMG-based variant classification.

Interprétation automatisée des variants (classification ACMG)

Nouvel outilPrédiction pathogénicité

Genet Med 2026· juil.Lire

asms

PubMed

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

Détection de la méthylation allèle-spécifique

Long-readNouvel outilLong-read sequencing

NAR Genom Bioinform 2026· juil.Lire

EviAnn

PubMed

Efficient evidence-based genome annotation with EviAnn.

Annotation de génome fondée sur l'évidence

Benchmark algorithmiqueNouvel outilBenchmark

Nat Methods 2026· juil.Lire

TP53

PubMed

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

Classification des variants faux-sens de *TP53* — approche premiers principes

Prédiction pathogénicitéNouvel outil

PLoS Comput Biol 2026· juinLire

GPC3

PubMed

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

Maladie génétique non diagnostiquée — insertion d'un élément transposable détecté par long-read en trio

Long-readLong-read sequencingSV caller

J Hum Genet 2026· juinLire

AIFM1

Lié à l'XPubMed

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

Maladies liées à l'X — analyse de l'inactivation du chromosome X par Nanopore

Long-readLong-read sequencingPipeline clinique

HGG Adv 2026· juinLire

Pipelines transcriptomiques / RNA-seq diagnostique

bioRxiv

STAR Suite: Transcriptomics processing in a single binary through AI-assisted development.

Pipelines transcriptomiques / RNA-seq diagnostique

Nouvel outilPipeline clinique

bioRxiv 2026· juinLire

Long-read

bioRxiv

SWARM resolves nanopore signal interference between RNA modification types and reveals splicing-shaped pseudouridylation.

Modifications épitranscriptomiques / séquençage nanopore direct ARN

Long-readNouvel outilLong-read sequencing

bioRxiv 2026· juinLire

Benchmark algorithmique

PubMed

Evaluating the role of pretraining dataset size and diversity on single-cell foundation model performance.

Modèles de fondation single-cell / transcriptomique

Benchmark algorithmiqueNouvel outilBenchmark

Nat Methods 2026· juinLire

Benchmark algorithmique

PubMed

Towards robust foundation models for digital pathology.

Anatomopathologie numérique / robustesse des modèles de fondation

Benchmark algorithmiqueNouvel outilBenchmark

Nat Commun 2026· juinLire

SRY

PubMed

Combined optical genome mapping and CNV-seq identify complex Y-chromosome rearrangements and ectopy in 46,XX testicular disorder of sex development.

Troubles du développement sexuel 46,XX / réarrangements chromosomiques Y complexes

Nouvel outilSV caller

Mol Cytogenet 2026· juinLire

G6PD

PubMed

Evidence for G6PD variant classification from multiplexed functional assays.

Déficit en G6PD

Benchmark algorithmiqueBenchmarkPrédiction pathogénicité

Genome Biol 2026· juinLire

ABCA7

PubMed

GWAS on short tandem repeats identifies genetic mechanisms in Alzheimer's disease.

Maladie d'Alzheimer

BenchmarkSV caller

Nat Commun 2026· juinLire

Long-read

bioRxiv

SWARM resolves nanopore signal interference between RNA modification types and reveals splicing-shaped pseudouridylation.

Épitranscriptome — modifications de l'ARN

Long-readLong-read sequencingNouvel outil

bioRxiv 2026· juinLire

Long-read

PubMed

Hybrid untargeted short-read and targeted long-read RNA sequencing facilitates genotype-phenotype associations at single-cell resolution.

Pipeline hybride short-read/long-read RNA-seq — associations génotype-phénotype à résolution cellulaire unique

Long-readLong-read sequencingNouvel outil

Genome Biol 2026· juinLire

Maladie d'Alzheimer autosomique dominante (PSEN1/PSEN2/APP) — modificateurs génétiques

Autosomique dominantPubMed

Identification of genetic modifiers of autosomal dominant Alzheimer's disease: a genome-wide association study.

Maladie d'Alzheimer autosomique dominante (PSEN1/PSEN2/APP) — modificateurs génétiques

Benchmark

Lancet Neurol 2026· juinLire

Interprétation des variants non-codants / régulation transcriptionnelle

PubMed

Decoding sequence determinants of gene expression in diverse cellular and disease states.

Interprétation des variants non-codants / régulation transcriptionnelle

Prédiction pathogénicitéNouvel outil

Nat Methods 2026· maiLire

Mécanisme de variation génomique par duplication en tandem médiée par la microhomologie — pertinence clinique pour les CNV pathogènes

PubMed

Microhomology-mediated tandem duplication is a conserved mechanism of genomic variation with relevance to human disease.

Mécanisme de variation génomique par duplication en tandem médiée par la microhomologie — pertinence clinique pour les CNV pathogènes

SV callerNouvel outil

PNAS 2026· maiLire

Variants structuraux (SV) en génétique diagnostique — approche intégrative OGM + short-read

PubMed

Integrative approach for delineating structural variants using optical genome mapping and short-read sequencing.

Variants structuraux (SV) en génétique diagnostique — approche intégrative OGM + short-read

SV callerPipeline clinique

Mol Biol Rep 2026· maiLire

Long-read

PubMed

Population-level structural variant characterization using pangenome graphs

Variants de structure (SV) — catalogue populationnel via pangenome

Long-readSV caller

Nature Genetics, 2026· marsLire

Maladies génétiques rares pédiatriques — non diagnostiquées après WES/WGS short-read

PubMed

Diagnostic utility of clinical genome reanalysis in rare pediatric disorders using long-read sequencing

Maladies génétiques rares pédiatriques — non diagnostiquées après WES/WGS short-read

Long-read sequencingRéanalyse génomique

HGG Advances, 2026· avr.Lire

Pipeline clinique

PubMed

Scaling genomic reanalysis to unlock diagnoses and transform rare disease care

Maladies génétiques rares — optimisation du rendement diagnostique par la réanalyse systématique

Pipeline cliniqueRéanalyse génomiqueRendement diagnostique

HGG Advances, 2026· avr.Lire

Long-read

PubMed

Targeted long-read RNA sequencing for rare disease diagnosis and variant interpretation

Maladies génétiques rares — interprétation des variants par RNA-seq long-read ciblé

Long-readLong-read sequencingRNA-seq diagnostique

Science Advances, 2026· avr.Lire

Détection du cancer par biopsie liquide (ADN libre circulant)

PubMed

Generalizable cancer detection from ultra-low-pass WGS via deep contextual modeling of cfDNA sequences.

Détection du cancer par biopsie liquide (ADN libre circulant)

Nouvel outilBenchmark

Mol Biomed 2026· aoûtLire

Diabète de type 2 — complications cardiovasculaires et rénales

Journal

Improving the reliability of polygenic risk score-based prediction for cardiovascular and renal complications across ancestries in type 2 diabetes using Mondrian Cross-Conformal Prediction

Diabète de type 2 — complications cardiovasculaires et rénales

Nouvel outilBenchmark

PLOS Comput Bio 2026· aoûtLire

Maladies complexes — cartographie d'association au niveau du gène

Journal

IBAS: Interaction-bridged association studies discovering novel genes underlying complex traits

Maladies complexes — cartographie d'association au niveau du gène

Nouvel outilBenchmark

PLOS Comput Bio 2026· aoûtLire

RNUopathies et classification des variants des gènes de snRNA

medRxiv

Guidance for clinical variant classification in genes for spliceosomal small nuclear RNAs.

RNUopathies et classification des variants des gènes de snRNA

Pipeline cliniqueNouvel outil

medRxiv 2026· aoûtLire

Prédiction de pathogénicité des variants faux-sens et synonymes

PubMed

SIMLINK Enables Accurate Variant Pathogenicity Prediction through Modeling the Gene-Variant-Feature Association Structure.

Prédiction de pathogénicité des variants faux-sens et synonymes

Nouvel outilPrédiction pathogénicité

Bioinformatics 2026· aoûtLire

JAG1

Autosomique dominantPubMed

Likelihood-based calibration improves the clinical utility of JAG1 functional data for variant classification.

Syndrome d'Alagille

Prédiction pathogénicité

Am J Hum Genet 2026· juil.Lire

Pipeline clinique

PubMed

Phenotype-guided etiologic workup in a prospective cohort of 144 adults with developmental and epileptic encephalopathy.

Encéphalopathie développementale et épileptique de l'adulte

Pipeline cliniquePipeline clinique

Epilepsia Open 2026· aoûtLire

Benchmark algorithmique

bioRxiv

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

Prédiction de l'impact des variants sur l'épissage

Benchmark algorithmiqueBenchmarkPrédiction pathogénicité

bioRxiv 2026· juil.Lire

Long-read

PubMed

A De Novo Algorithm for Allele Reconstruction from Oxford Nanopore Amplicon Reads, with Application to CYP2D6.

Reconstruction d'allèles et diplotypage à partir de long-read amplicon

Long-readNouvel outilLong-read sequencing

Bioinformatics 2026· juil.Lire

MYBPC3

PubMed

Scaled Multidimensional Assays of Variant Effect Identify Sequence-Function Relationships in Hypertrophic Cardiomyopathy.

Cardiomyopathie hypertrophique

Long-readPrédiction pathogénicitéLong-read sequencing

Circulation 2026· juil.Lire

Interprétation des variants structuraux

bioRxiv

Coordinate- and Sequence-Based Features for a new Combined Annotation-Dependent Depletion Framework of Structural Variants (CADD-SV v2.0)

Interprétation des variants structuraux

Nouvel outilPrédiction pathogénicité

bioRxiv 2026· juil.Lire

Benchmark algorithmique

PubMed

A systematic benchmark of bioinformatics methods for single-cell and spatial RNA-seq nanopore long reads data.

Transcriptomique unicellulaire et spatiale

Benchmark algorithmiqueBenchmarkLong-read sequencing

NAR Genom Bioinform 2026· juil.Lire

Long-read

bioRxiv

synpact: accurate, memory-light PacBio HiFi read mapping via a hierarchy of locally-consistent syncmer blocks

Alignement de reads long-read

Long-readNouvel outilLong-read sequencing

bioRxiv 2026· juil.Lire

Séquençage génomique — accès équitable

PubMed

A blended genome and exome sequencing method captures genetic variation in an unbiased and cost-effective manner.

Séquençage génomique — accès équitable

Nouvel outilPipeline clinique

Nat Genet 2026· juil.Lire

Svirlpool

bioRxiv

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

Détection de variants structuraux (long-read, multi-échantillons)

Long-readSV callerLong-read sequencing

bioRxiv 2026· juinLire

Long-read

PubMed

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

Surveillance moléculaire du neuroblastome à haut risque

Long-readPipeline clinique

Clin Cancer Res 2026· juil.Lire

Long-read

PubMed

Near-perfect genome sequencing in medical genetics

Génétique médicale — vers le séquençage de génome quasi parfait (one-test paradigm)

Long-readLong-read sequencingPipeline clinique

Nat Genet 2026· juinLire

Benchmark algorithmique

PubMed

Comprehensive comparison of homologous recombination deficiency predictors in early-stage triple-negative breast cancer

Cancer du sein triple-négatif — comparaison des prédicteurs de déficience de recombinaison homologue (HRD)

Benchmark algorithmiqueBenchmarkPrédiction pathogénicité

Breast Cancer Res 2026· juinLire

Long-read

PubMed

Spatially resolved m6A profiling across tissues using m6A-ARTR-DBiT.

Épitranscriptomique spatiale / modification m6A

Long-readNouvel outilLong-read sequencing

Nat Methods 2026· juinLire

Dépistage néonatal / génomique

PubMed

Genomics to Enhance Newborn Screening?

Dépistage néonatal / génomique

BenchmarkPipeline clinique

Genet Med 2026· juinLire

Benchmark algorithmique

PubMed

⭐ À la une

General-purpose large language models outperform specialized clinical AI tools on medical benchmarks.

IA clinique / LLMs en médecine

Benchmark algorithmiqueBenchmarkLLM appliqué

Nat Med 2026· juinLire

Test génétique préimplantatoire pour maladies monogéniques (PGT-M)

PubMed

Systematic assessment of allele dropout in preimplantation genetic testing for monogenic disorders: Incidence, detection, and clinical testing strategies.

Test génétique préimplantatoire pour maladies monogéniques (PGT-M)

BenchmarkPipeline clinique

Fertil Steril 2026· juinLire

Cancer gastrique — détection précoce

PubMed

Cell-free DNA methylation biomarkers for the early detection and tumor burden monitoring of gastric cancer.

Cancer gastrique — détection précoce

Pipeline cliniqueBenchmark

NPJ Precis Oncol 2026· juinLire

Long-read

PubMed

Long-read sequencing bridges germline and somatic variant detection: a multi-modal approach for hereditary cancer diagnostics.

Cancer héréditaire — diagnostic multi-modal

Long-readLong-read sequencingPipeline clinique

Clin Transl Oncol 2026· juinLire

Benchmark algorithmique

PubMed

Benchmarking next- versus third-generation sequencing in metagenomics: performance metrics and diagnostic efficacy.

Métagénomique clinique diagnostique

Benchmark algorithmiqueLong-read sequencingBenchmark

Microbiology Spectrum 2026· juinLire

Benchmark algorithmique

PubMed

A scalable approach to investigating sequence-to-function predictions from personal genomes.

Prédiction séquence-fonction sur génomes individuels

Benchmark algorithmiqueNouvel outilBenchmark

Nat Methods 2026· juinLire

Modèle de langage biologique multimodal

bioRxiv

OmniGene-4: A Unified Bio-Language MoE Model with Router-Level Interpretability.

Modèle de langage biologique multimodal

LLM appliquéNouvel outil

bioRxiv 2026· juinLire

Long-read

PubMed

Third-Generation Nanopore Sequencing for Post-Transplant Chimerism Monitoring.

Monitoring chimérisme post-greffe de cellules souches hématopoïétiques — Nanopore tiers génération

Long-readLong-read sequencingPipeline clinique

HLA 2026· juinLire

Prédiction de pathogénicité des CNV — modèle deep learning par représentation image

bioRxiv

Vision-Based Genomic Model for Copy Number Variant Pathogenicity Prediction.

Prédiction de pathogénicité des CNV — modèle deep learning par représentation image

Nouvel outilPrédiction pathogénicité

bioRxiv 2026· maiLire

Long-read

bioRxiv

Personalized reference genome-based pipeline reveals comprehensive haplotype-resolved views of cancer genomes.

Analyse du génome tumoral — pipeline basé sur génome de référence personnalisé haploïde-résolu

Long-readNouvel outilLong-read sequencing

bioRxiv 2026· maiLire

Long-read

PubMed

StringTie3 improves total RNA-seq assembly by resolving nascent and mature transcripts.

Assemblage RNA-seq diagnostique / isoformes d'épissage

Long-readLong-read sequencingPipeline clinique

Nat Methods 2026· maiLire

Prédiction de fonction protéique / génomique fonctionnelle

PubMed

Advancing generative large language models toward discriminative performance in protein function prediction.

Prédiction de fonction protéique / génomique fonctionnelle

LLM appliquéNouvel outil

Genome Biol 2026· maiLire

Benchmark algorithmique

PubMed

Analyzing the performance of deep learning splice prediction algorithms.

Variants d'épissage (introniques profonds)

Benchmark algorithmiqueBenchmarkPrédiction pathogénicité

PLoS ONE 2026· maiLire

Charcot-Marie-Tooth

PubMed

CGG repeat expansions in Charcot-Marie-Tooth disease: insights from the 100 000 Genomes Project.

Maladie de Charcot-Marie-Tooth non résolue

Charcot-Marie-ToothBenchmark

Journal of Neurology Neurosurgery and Psychiatry 2026· maiLire

Maladies neurогénétiques rares dans des familles marocaines — diagnostic exomique et élargissement du spectre génétique

PubMed

Expanding the genetic spectrum of neurogenetic disorders in Moroccan families by exome sequencing.

Maladies neurогénétiques rares dans des familles marocaines — diagnostic exomique et élargissement du spectre génétique

Pipeline cliniqueBenchmark

Mol Biol Rep 2026· maiLire

Benchmark algorithmique

PubMed

Comprehensive evaluation of ACMG/AMP-based variant classification tools

Maladies mendéliennes — benchmark des outils de classification ACMG/AMP en contexte clinique réel

Benchmark algorithmiqueClassification ACMGBenchmark

Bioinformatics (Oxford), 2026· fév.Lire

Benchmark algorithmique

PubMed

Splicing Predictions, Splicing Assays, and Variant Classification Using ACMG/AMP Guidelines: Challenges Observed with BRCA1 and BRCA2 Variants

HBOC — reclassification des variants d'épissage BRCA1/BRCA2

Benchmark algorithmiqueClassification ACMGVUS reclassifié

Clinical Chemistry, 2026· fév.Lire

Maladies rares — utilisation des LLMs pour le diagnostic génétique et la découverte de nouveaux gènes

PubMed

Genetic Diagnosis and Discovery Enabled by Large Language Models

Maladies rares — utilisation des LLMs pour le diagnostic génétique et la découverte de nouveaux gènes

Optical genome mapping enhanced by refined variant interpretation in pediatric acute lymphoblastic leukemia.

Leucémie aiguë lymphoblastique B de l'enfant

Pipeline cliniquePipeline cliniqueSV caller

J Pathol 2026· aoûtLire

Long-read

PubMed

Detecting pathogenic structural variation in families with undiagnosed rare disease in a national genome project.

Maladies rares non résolues après séquençage short-read

Long-readLong-read sequencingSV caller

Eur J Hum Genet 2026· aoûtLire

Interprétation des variants non codants

PubMed

Mapping enhancer-gene regulatory interactions from single-cell data.

Interprétation des variants non codants

Nouvel outilBenchmark

Nat Genet 2026· aoûtLire

Maladies génétiques héréditaires accessibles au saut d'exon

medRxiv

A scalable platform for exon-skipping antisense oligonucleotide therapy development for inborn genetic diseases

Maladies génétiques héréditaires accessibles au saut d'exon

Nouvel outil

medRxiv 2026· juil.Lire

Classification des variants faux-sens dans les régions intrinsèquement désordonnées

PubMed

Enhancing missense variant classification in predicted intrinsically disordered regions.

Classification des variants faux-sens dans les régions intrinsèquement désordonnées

Nouvel outilPrédiction pathogénicité

PLoS One 2026· juil.Lire

Long-read

PubMed

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

Diagnostic génomique en réanimation néonatale

Long-readBenchmarkLong-read sequencing

medRxiv 2026· juil.Lire

Biais de référence en séquençage génomique préventif

PubMed

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

Biais de référence en séquençage génomique préventif

Pipeline clinique

Geroscience 2026· juil.Lire

Orientation vers le séquençage de génome rapide en réanimation néonatale

medRxiv

NeoGx: Machine-Recommended Rapid Genome Sequencing for Neonates

Orientation vers le séquençage de génome rapide en réanimation néonatale

Nouvel outilPipeline clinique

medRxiv 2026· juil.Lire

Long-read

PubMed

Accuracy of nanopore sequencing technology for rapid diagnosis of tuberculous mediastinal and hilar lymphadenopathy.

Tuberculose médiastinale — diagnostic par séquençage Nanopore

Long-readLong-read sequencingPipeline clinique

BMJ Open 2026· maiLire

GPIHBP1

PubMed

Resolving a complex GPIHBP1 exons 3-4 deletion adjacent to low-complexity repeats using adaptive sampling long-read sequencing in familial chylomicronaemia.

Syndrome de chylomicronémie familiale (GPIHBP1)

Long-readSV callerPipeline clinique

Clinica Chimica Acta 2026· maiLire

Prédiction des promoteurs à résolution nucléotidique

Journal

EvoSNR-Prom: Predicting promoters at single-nucleotide resolution with label-aware transfer learning of the pretrained EVO model

Prédiction des promoteurs à résolution nucléotidique

Nouvel outilLLM appliqué

PLOS Comput Bio 2026· aoûtLire

Identification de populations cellulaires rares en transcriptomique unicellulaire

Journal

RareCapsNet: An explainable capsule network enables robust discovery of rare cell populations from large-scale single-cell transcriptomics

Identification de populations cellulaires rares en transcriptomique unicellulaire

Nouvel outilBenchmark

PLOS Comput Bio 2026· aoûtLire

Long-read

PubMed

Simultaneous detection of thalassemia, hemoglobinopathies, and G6PD variants using long-read nanopore sequencing: genetic complexity and heterogeneity in Thailand.

Thalassémies, hémoglobinopathies et déficit en G6PD

Long-readLong-read sequencingPipeline clinique

PeerJ 2026· aoûtLire

Pipeline clinique

PubMed

Whole genome sequencing in cerebral palsy: a UK paediatric pilot study.

Paralysie cérébrale de l'enfant

Pipeline cliniquePipeline clinique

Lancet Reg Health Eur 2026· aoûtLire

Pipeline clinique

PubMed

DisoPatho: A Cross-View Feature-Adaptive Interaction Encoding Framework for Predicting Disease-Associated Variants in Intrinsically Disordered Regions.

Variants pathogènes des régions intrinsèquement désordonnées

Pipeline cliniqueNouvel outilPrédiction pathogénicité

J Chem Inf Model 2026· juil.Lire

Long-read

medRxiv

SVkhor: a unified framework for structural variant integration across long-read, short-read, and optical genome mapping data

Diagnostic génomique des variants structuraux

Long-readNouvel outilSV caller

medRxiv 2026· aoûtLire

Profilage spatial des tissus

PubMed

Sequencing-free spatial profiling of post-transcriptional regulation in fresh tissues using nanoneedle arrays.

Profilage spatial des tissus

Nouvel outil

Nat Biomed Eng 2026· juil.Lire

Benchmark algorithmique

PubMed

Comparative evaluation of manual and automated ACMG/AMP variant classification: implications for clinical genetic practice.

Comparaison outils ACMG/AMP vs curation experte

Benchmark algorithmiqueBenchmarkPrédiction pathogénicité

Sci Rep 2026· juil.Lire

Standards et ressources pour le génome médical

PubMed

Harmonizing standards and resources for the medical genome.

Standards et ressources pour le génome médical

Nature 2026· juil.Lire

Interprétation automatisée des variants oncogéniques

PubMed

Classifying Clinical Evidence Levels of Cancer Variants in Biomedical Literature Using Machine Learning.

Interprétation automatisée des variants oncogéniques

LLM appliquéBenchmark

Stud Health Technol Inform 2026· maiLire

Pipeline clinique

bioRxiv

SIEVE: Sparse Interpretable Exome Variant Explainer.

Priorisation de variants en études cas-témoins d'exome

Pipeline cliniqueNouvel outil

bioRxiv 2026· aoûtLire

Risque germinal non codant de cancer bronchique

bioRxiv

PGViS: Personal Genome Variant interpretation Score for lung cancer genomes.

Risque germinal non codant de cancer bronchique

Nouvel outilLLM appliqué

bioRxiv 2026· aoûtLire

Archive complete

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

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

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

AI-CURA, an automated LLM workflow for high-accuracy genetic variant classification

Systematic evaluation of long-read and short-read sequencing in neurological disorders diagnosis: a direct comparison study of 310 patients

Rapid and Reproducible Karyotyping with Long Read Sequencing in AML Patients

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

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

pAnno: a comprehensive, precise, and fast proteogenomic workflow for the discovery of novel coding regions.

From raw audio to structure: an agent-based pipeline that boosts medical LLM performance.

A complete diploid human genome benchmark for personalized genomics.

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

Self-explaining artificial intelligence for the classification of B cell non-Hodgkin lymphoma: A diagnostic decision support study.

Copy number variant analysis by exome sequencing is an effective approach to optimize diagnostic yield for developmental disorders-the DDD-Africa study.

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

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

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

Validation of an integrated metagenomic pipeline combining optimized wet-lab processing and tiered reporting for CSF pathogen detection

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

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

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

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

A fine-tuned genomic language model captures nucleotide-level information overlooked by missense variant impact predictors.

Benchmarking Q40 sequencing for sensitive and efficient detection of rare genomic variants.

Pan-cell type continuous chromatin state annotation of all epigenomes from the International Human Epigenome Consortium.

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

HiFi sequencing accurately identifies clinically relevant variants in paralogous genes.

MARRVEL-MCP: An agentic interface for Mendelian disease discovery via tool-augmented context engineering.

G.AI: an AI-driven platform for phenotype standardization, variant interpretation and structured clinical reporting in rare disease genomic diagnosis.

Targeted reflex RNA sequencing for enhanced variant classification on exome and genome sequencing improves patient outcomes.

The genetic etiology of spontaneous abortion: insights from chromosomal microarray analysis and whole-exome sequencing.

Benchmarking reveals the superiority of nucleic acid foundation models in predicting lncRNA coding potential.

Evaluating the Impact of ClinGen Variant Curation Expert Panel Criteria Specifications on Variant Interpretation across Multiple Genes.

AVITI sequencing of a four-generation CEPH/Utah pedigree confirms low mutation rates at homopolymers and short tandem repeats.

An agentic system for rare disease diagnosis with traceable reasoning

Advancing regulatory variant effect prediction with AlphaGenome

Phenotypic prediction of missense variants via deep contrastive learning

HiFi long-read RNA sequencing enhances clinical diagnostics in rare disorders

AAVC: an automated framework for high-accuracy ACMG-based variant classification.

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

Efficient evidence-based genome annotation with EviAnn.

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

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

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

STAR Suite: Transcriptomics processing in a single binary through AI-assisted development.

SWARM resolves nanopore signal interference between RNA modification types and reveals splicing-shaped pseudouridylation.

Evaluating the role of pretraining dataset size and diversity on single-cell foundation model performance.

Towards robust foundation models for digital pathology.

Combined optical genome mapping and CNV-seq identify complex Y-chromosome rearrangements and ectopy in 46,XX testicular disorder of sex development.

Evidence for G6PD variant classification from multiplexed functional assays.

GWAS on short tandem repeats identifies genetic mechanisms in Alzheimer's disease.

SWARM resolves nanopore signal interference between RNA modification types and reveals splicing-shaped pseudouridylation.

Hybrid untargeted short-read and targeted long-read RNA sequencing facilitates genotype-phenotype associations at single-cell resolution.

Identification of genetic modifiers of autosomal dominant Alzheimer's disease: a genome-wide association study.

Decoding sequence determinants of gene expression in diverse cellular and disease states.

Microhomology-mediated tandem duplication is a conserved mechanism of genomic variation with relevance to human disease.

Integrative approach for delineating structural variants using optical genome mapping and short-read sequencing.

Population-level structural variant characterization using pangenome graphs

Diagnostic utility of clinical genome reanalysis in rare pediatric disorders using long-read sequencing

Scaling genomic reanalysis to unlock diagnoses and transform rare disease care

Targeted long-read RNA sequencing for rare disease diagnosis and variant interpretation

Generalizable cancer detection from ultra-low-pass WGS via deep contextual modeling of cfDNA sequences.

Improving the reliability of polygenic risk score-based prediction for cardiovascular and renal complications across ancestries in type 2 diabetes using Mondrian Cross-Conformal Prediction

IBAS: Interaction-bridged association studies discovering novel genes underlying complex traits

Guidance for clinical variant classification in genes for spliceosomal small nuclear RNAs.

SIMLINK Enables Accurate Variant Pathogenicity Prediction through Modeling the Gene-Variant-Feature Association Structure.

Likelihood-based calibration improves the clinical utility of JAG1 functional data for variant classification.

Phenotype-guided etiologic workup in a prospective cohort of 144 adults with developmental and epileptic encephalopathy.

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

A De Novo Algorithm for Allele Reconstruction from Oxford Nanopore Amplicon Reads, with Application to CYP2D6.

Scaled Multidimensional Assays of Variant Effect Identify Sequence-Function Relationships in Hypertrophic Cardiomyopathy.

Coordinate- and Sequence-Based Features for a new Combined Annotation-Dependent Depletion Framework of Structural Variants (CADD-SV v2.0)

A systematic benchmark of bioinformatics methods for single-cell and spatial RNA-seq nanopore long reads data.

synpact: accurate, memory-light PacBio HiFi read mapping via a hierarchy of locally-consistent syncmer blocks

A blended genome and exome sequencing method captures genetic variation in an unbiased and cost-effective manner.

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

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

Near-perfect genome sequencing in medical genetics