Full archive

73 articles across 9 weeks of watch.

Search the full archive

Gene, disease, OMIM, keyword - across all published weeks.

Category:

Filters··Min. score

73 articles of 73

Sort

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

Automated genetic variant classification by LLM following ACMG/AMP/ClinGen

Clinical pipelineLLM appliedNew tool

Sci Transl Med 2026· JunRead

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

Genetic neurological disorders — direct comparison of long-read vs short-read WGS

Long-readLong-read sequencingBenchmark

NPJ Genom Med 2026· JunRead

Long-read

PubMed

★ Top pick

Rapid and Reproducible Karyotyping with Long Read Sequencing in AML Patients

Acute myeloid leukemia — rapid karyotyping by long-read sequencing

Long-readLong-read sequencingClinical pipeline

Blood Adv 2026· JunRead

Clinical pipeline

PubMed

★ Top pick

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

PubMed

★ Top pick

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

Algorithm benchmark

PubMed

★ Top pick

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

Proteogenomic annotation

Algorithm benchmarkNew toolClinical pipeline

Genome Biol 2026· JunRead

Clinical medical AI

PubMed

★ Top pick

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

Clinical medical AI

LLM appliedClinical pipeline

NPJ Digit Med 2026· JunRead

Clinical pipeline

PubMed

★ Top pick

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

Central nervous system infections — CSF pathogen detection by metagenomics

Clinical pipelineClinical pipelineBenchmark

Microbiol Spectr 2026· JunRead

Clinical pipeline

PubMed

★ Top pick

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

PubMed

★ Top pick

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

PubMed

★ Top pick

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

PubMed

★ Top pick

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

Algorithm benchmark

bioRxiv

★ Top pick

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

Missense variant interpretation / pathogenicity prediction

Algorithm benchmarkNew toolPathogenicity prediction

bioRxiv 2026· JunRead

Algorithm benchmark

PubMed

★ Top pick

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

Rare variant detection / sequencing quality

Algorithm benchmarkBenchmarkClinical pipeline

Genome Biol 2026· JunRead

Epigenomic annotation / noncoding variant interpretation

PubMed

★ Top pick

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

Epigenomic annotation / noncoding variant interpretation

New toolPathogenicity prediction

Genome Biol 2026· JunRead

Clinical pipeline

PubMed

★ Top pick

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

Mendelian diseases / splicing variants missed by ES/GS

Clinical pipelineNew toolClinical pipeline

Genet Med 2026· JunRead

Long-read

PubMed

★ Top pick

HiFi sequencing accurately identifies clinically relevant variants in paralogous genes.

Variants in paralogous genes

Long-readLong-read sequencingClinical pipeline

Am J Hum Genet 2026· JunRead

Mendelian diseases — variant interpretation

PubMed

★ Top pick

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

Mendelian diseases — variant interpretation

LLM appliedClinical pipeline

Am J Hum Genet 2026· JunRead

Clinical pipeline

PubMed

★ Top pick

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

Rare diseases — genomic diagnosis

Clinical pipelineLLM appliedClinical pipeline

J Transl Med 2026· JunRead

Clinical pipeline

PubMed

★ Top pick

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

Splicing variants — reclassification by RNA-seq

Clinical pipelineClinical pipelinePathogenicity prediction

NPJ Genomic Med 2026· JunRead

Clinical pipeline

PubMed

★ Top pick

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

Spontaneous abortion — genetic etiology

Clinical pipelineClinical pipelineBenchmark

Sci Rep 2026· JunRead

Algorithm benchmark

PubMed

★ Top pick

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

lncRNA coding potential prediction

Algorithm benchmarkBenchmarkPathogenicity prediction

Genome Biol 2026· JunRead

Variant classification — impact of ClinGen VCEP criteria specifications on diagnostic interpretation

PubMed

★ Top pick

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

Variant classification — impact of ClinGen VCEP criteria specifications on diagnostic interpretation

BenchmarkPathogenicity prediction

J Mol Diagn 2026· JunRead

Benchmark of STR and homopolymer detection in clinical sequencing — real mutation rates in a four-generation pedigree

PubMed

★ Top pick

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

Benchmark of STR and homopolymer detection in clinical sequencing — real mutation rates in a four-generation pedigree

BenchmarkClinical pipeline

Genome Biol 2026· MayRead

Rare diseases — diagnosis by agentic AI system

PubMed

★ Top pick

⭐ À la une

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

GPC3

PubMed

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

AIFM1

X-linkedPubMed

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

Transcriptomics pipelines / diagnostic RNA-seq

bioRxiv

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

Transcriptomics pipelines / diagnostic RNA-seq

New toolClinical pipeline

bioRxiv 2026· JunRead

Long-read

bioRxiv

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

Epitranscriptomic modifications / direct RNA nanopore sequencing

Long-readNew toolLong-read sequencing

bioRxiv 2026· JunRead

Algorithm benchmark

PubMed

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

Single-cell foundation models / transcriptomics

Algorithm benchmarkNew toolBenchmark

Nat Methods 2026· JunRead

Algorithm benchmark

PubMed

Towards robust foundation models for digital pathology.

Digital pathology / foundation model robustness

Algorithm benchmarkNew toolBenchmark

Nat Commun 2026· JunRead

SRY

PubMed

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

46,XX testicular disorder of sex development / complex Y-chromosome rearrangements

New toolSV caller

Mol Cytogenet 2026· JunRead

G6PD

PubMed

Evidence for G6PD variant classification from multiplexed functional assays.

G6PD deficiency

Algorithm benchmarkBenchmarkPathogenicity prediction

Genome Biol 2026· JunRead

ABCA7

PubMed

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

Alzheimer's disease

BenchmarkSV caller

Nat Commun 2026· JunRead

Long-read

bioRxiv

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

Epitranscriptome — RNA modifications

Long-readLong-read sequencingNew tool

bioRxiv 2026· JunRead

Long-read

PubMed

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

Hybrid short-read/long-read RNA-seq pipeline — genotype-phenotype associations at single-cell resolution

Long-readLong-read sequencingNew tool

Genome Biol 2026· JunRead

Autosomal dominant Alzheimer's disease (PSEN1/PSEN2/APP) — genetic modifiers

Autosomal dominantPubMed

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

Autosomal dominant Alzheimer's disease (PSEN1/PSEN2/APP) — genetic modifiers

Benchmark

Lancet Neurol 2026· JunRead

Noncoding variant interpretation / transcriptional regulation

PubMed

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

Noncoding variant interpretation / transcriptional regulation

Pathogenicity predictionNew tool

Nat Methods 2026· MayRead

Microhomology-mediated tandem duplication mechanism — clinical relevance for pathogenic CNVs

PubMed

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

Microhomology-mediated tandem duplication mechanism — clinical relevance for pathogenic CNVs

SV callerNew tool

PNAS 2026· MayRead

Structural variants (SV) in diagnostic genetics — integrative OGM + short-read approach

PubMed

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

Structural variants (SV) in diagnostic genetics — integrative OGM + short-read approach

SV callerClinical pipeline

Mol Biol Rep 2026· MayRead

Long-read

PubMed

Population-level structural variant characterization using pangenome graphs

Structural variants (SV) — population-level catalog via pangenome

Long-readSV caller

Nature Genetics, 2026· MarRead

Rare pediatric genetic diseases — undiagnosed after WES/short-read WGS

PubMed

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

Rare pediatric genetic diseases — undiagnosed after WES/short-read WGS

Long-read sequencingGenomic reanalysis

HGG Advances, 2026· AprRead

Clinical pipeline

PubMed

Scaling genomic reanalysis to unlock diagnoses and transform rare disease care

Rare genetic diseases — optimization of diagnostic yield through systematic reanalysis

Clinical pipelineGenomic reanalysisDiagnostic yield

HGG Advances, 2026· AprRead

Long-read

PubMed

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

Rare genetic diseases — variant interpretation by targeted long-read RNA-seq

Long-readLong-read sequencingDiagnostic RNA-seq

Science Advances, 2026· AprRead

Long-read

PubMed

Near-perfect genome sequencing in medical genetics

Medical genetics — toward near-perfect genome sequencing (one-test paradigm)

Long-readLong-read sequencingClinical pipeline

Nat Genet 2026· JunRead

Algorithm benchmark

PubMed

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

Triple-negative breast cancer — comparison of homologous recombination deficiency (HRD) predictors

Algorithm benchmarkBenchmarkPathogenicity prediction

Breast Cancer Res 2026· JunRead

Long-read

PubMed

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

Spatial epitranscriptomics / m6A modification

Long-readNew toolLong-read sequencing

Nat Methods 2026· JunRead

Newborn screening / genomics

PubMed

Genomics to Enhance Newborn Screening?

Newborn screening / genomics

BenchmarkClinical pipeline

Genet Med 2026· JunRead

Algorithm benchmark

PubMed

⭐ À la une

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

Clinical AI / LLMs in medicine

Algorithm benchmarkBenchmarkLLM applied

Nat Med 2026· JunRead

Preimplantation genetic testing for monogenic disorders (PGT-M)

PubMed

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

Preimplantation genetic testing for monogenic disorders (PGT-M)

BenchmarkClinical pipeline

Fertil Steril 2026· JunRead

Gastric cancer — early detection

PubMed

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

Gastric cancer — early detection

Clinical pipelineBenchmark

NPJ Precis Oncol 2026· JunRead

Long-read

PubMed

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

Hereditary cancer — multi-modal diagnosis

Long-readLong-read sequencingClinical pipeline

Clin Transl Oncol 2026· JunRead

Algorithm benchmark

PubMed

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

Clinical diagnostic metagenomics

Algorithm benchmarkLong-read sequencingBenchmark

Microbiology Spectrum 2026· JunRead

Algorithm benchmark

PubMed

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

Sequence-to-function prediction on personal genomes

Algorithm benchmarkNew toolBenchmark

Nat Methods 2026· JunRead

Multimodal bio-language model

bioRxiv

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

Multimodal bio-language model

LLM appliedNew tool

bioRxiv 2026· JunRead

Long-read

PubMed

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

Post-hematopoietic stem cell transplantation chimerism monitoring — third-generation Nanopore sequencing

Long-readLong-read sequencingClinical pipeline

HLA 2026· JunRead

CNV pathogenicity prediction — deep learning model with image-based representation

bioRxiv

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

CNV pathogenicity prediction — deep learning model with image-based representation

New toolPathogenicity prediction

bioRxiv 2026· MayRead

Long-read

bioRxiv

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

Cancer genome analysis — pipeline based on personalized haplotype-resolved reference genome

Long-readNew toolLong-read sequencing

bioRxiv 2026· MayRead

Long-read

PubMed

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

Diagnostic RNA-seq assembly / splicing isoforms

Long-readLong-read sequencingClinical pipeline

Nat Methods 2026· MayRead

Protein function prediction / functional genomics

PubMed

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

Protein function prediction / functional genomics

LLM appliedNew tool

Genome Biol 2026· MayRead

Algorithm benchmark

PubMed

Analyzing the performance of deep learning splice prediction algorithms.

Splicing variants (deep intronic)

Algorithm benchmarkBenchmarkPathogenicity prediction

PLoS ONE 2026· MayRead

Charcot-Marie-Tooth

PubMed

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

Unsolved Charcot-Marie-Tooth disease

Charcot-Marie-ToothBenchmark

Journal of Neurology Neurosurgery and Psychiatry 2026· MayRead

Rare neurogenetic disorders in Moroccan families — exome diagnosis and expanded genetic spectrum

PubMed

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

Rare neurogenetic disorders in Moroccan families — exome diagnosis and expanded genetic spectrum

Clinical pipelineBenchmark

Mol Biol Rep 2026· MayRead

Algorithm benchmark

PubMed

Comprehensive evaluation of ACMG/AMP-based variant classification tools

Mendelian diseases — ACMG/AMP classification tool benchmark in real clinical context

Algorithm benchmarkACMG classificationBenchmark

Bioinformatics (Oxford), 2026· FebRead

Algorithm benchmark

PubMed

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

HBOC — reclassification of BRCA1/BRCA2 splicing variants

Algorithm benchmarkACMG classificationVUS reclassified

Clinical Chemistry, 2026· FebRead

Rare diseases — LLM use for genetic diagnosis and new gene discovery

PubMed

Genetic Diagnosis and Discovery Enabled by Large Language Models

Rare diseases — LLM use for genetic diagnosis and new gene discovery

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

Mediastinal tuberculosis — Nanopore sequencing diagnosis

Long-readLong-read sequencingClinical pipeline

BMJ Open 2026· MayRead

GPIHBP1

PubMed

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

Familial chylomicronaemia syndrome (GPIHBP1)

Long-readSV callerClinical pipeline

Clinica Chimica Acta 2026· MayRead

Automated oncogenic variant interpretation

PubMed

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

Automated oncogenic variant interpretation

LLM appliedBenchmark

Stud Health Technol Inform 2026· MayRead

Full archive

Search the full archive

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.

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

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

Near-perfect genome sequencing in medical genetics

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

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

Genomics to Enhance Newborn Screening?

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

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

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

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

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

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

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

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

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

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

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

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

Analyzing the performance of deep learning splice prediction algorithms.

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

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

Comprehensive evaluation of ACMG/AMP-based variant classification tools

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

Genetic Diagnosis and Discovery Enabled by Large Language Models

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

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

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