Full archive
121 articles across 16 weeks of watch.
Week of 18 August 2026
6 articlesCancer detection from cell-free DNA (liquid biopsy)
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Week of 11 August 2026
10 articlesPersonal genomics and diploid reference
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Week of 4 August 2026
5 articlesDevelopmental and epileptic encephalopathy in adults
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Week of 28 July 2026
6 articlesKCNQ1 - Congenital long QT syndrome
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Week of 21 July 2026
3 articlesAutomated variant interpretation (ACMG classification)
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Week of 14 July 2026
7 articlesB cell non-Hodgkin lymphoma
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Week of 7 July 2026
11 articlesVariant interpretation — monogenic epilepsy
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Week of 30 June 2026
6 articlesAutomated genetic variant classification by LLM following ACMG/AMP/ClinGen
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Week of 23 June 2026
9 articlesUnified structural variant (SV) detection in short-read WGS
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Week of 16 June 2026
13 articlesClinical AI / LLMs in medicine
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Week of 10 June 2026
16 articlesProteogenomic annotation
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Week of 3 June 2026
6 articlesVariant classification — impact of ClinGen VCEP criteria specifications on diagnostic interpretation
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Week of 27 May 2026
5 articlesNoncoding variant interpretation / transcriptional regulation
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Week of 20 May 2026
3 articlesSplicing variants (deep intronic)
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Week of 13 May 2026
4 articlesBenchmark of STR and homopolymer detection in clinical sequencing — real mutation rates in a four-generation pedigree
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Week of 6 May 2026
11 articlesRare diseases — diagnosis by agentic AI system
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Gene, disease, OMIM, keyword - across all published weeks.
121 articles of 121
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SeizeVar
PubMed★ Top pick
From Pathogenicity to Mechanism: A Variant Interpretation Framework for Monogenic Epilepsy.
Variant interpretation — monogenic epilepsy
10
Pathogenicity predictionNew tool
Clin Genet 2026· JulRead
Long-read
PubMed★ Top pick
Targeted long-read sequencing with adaptive sampling enables the integrated genomic and epigenomic profiling of imprinting disorders.
Imprinting disorder diagnostics (Beckwith-Wiedemann spectrum)
10
Long-readLong-read sequencingClinical pipeline
Sci Rep 2026· JulRead
Long-read
PubMed★ Top pick
Targeted long-read sequencing enables comprehensive analysis of the genetic and epigenetic landscape of inherited myopathies.
Inherited myopathy diagnostics (including FSHD/D4Z4)
10
Long-readLong-read sequencingClinical pipeline
Nat Commun 2026· JulRead
AI-CURA
PubMed★ Top pick
⭐ À la une
AI-CURA, an automated LLM workflow for high-accuracy genetic variant classification
Automated genetic variant classification by LLM following ACMG/AMP/ClinGen
10
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
10
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
10
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
10
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
10
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
10
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
10
LLM appliedClinical pipeline
NPJ Digit Med 2026· JunRead
Algorithm benchmark
PubMed★ Top pick
⭐ À la une
A complete diploid human genome benchmark for personalized genomics.
Personal genomics and diploid reference
9
Algorithm benchmarkBenchmark
Cell 2026· AugRead
KCNQ1
PubMed★ Top pick
Classification models for KCNQ1 variants distinguish functional and trafficking effects to enhance pathogenicity interpretation.
Congenital long QT syndrome
9
New toolPathogenicity prediction
Proc Natl Acad Sci U S A 2026· JulRead
B cell non-Hodgkin lymphoma
PubMed★ Top pick
Self-explaining artificial intelligence for the classification of B cell non-Hodgkin lymphoma: A diagnostic decision support study.
B cell non-Hodgkin lymphoma
9
New toolBenchmark
PLoS Med 2026· JulRead
Clinical pipeline
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.
Developmental disorders
9
Clinical pipelineClinical pipelineSV caller
Eur J Hum Genet 2026· JulRead
ClairS
PubMed★ Top pick
ClairS: a deep-learning method for long-read tumor-normal pair somatic small variant calling.
Somatic variant calling (tumor-normal pairs, long-read)
9
Long-readNew toolLong-read sequencing
Nat Methods 2026· JulRead
KGRD
PubMed★ Top pick
KGRD: a knowledge-graph-augmented automated reasoning framework for diagnosis and counselling of paediatric rare genetic disorders.
Diagnostic support for paediatric rare diseases
9
Clinical pipelineLLM appliedNew tool
NPJ Digit Med 2026· JulRead
RankVar
PubMed★ Top pick
RankVar: machine learning-based variant ranking and reinterpretation for rare genetic diseases.
Variant prioritisation — rare genetic diseases
9
Clinical pipelineNew toolPathogenicity prediction
Genome Med 2026· JulRead
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
9
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
9
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
9
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
9
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
9
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
9
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
9
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
9
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
9
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
9
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
9
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
9
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
9
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
9
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
9
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
9
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
9
BenchmarkClinical pipeline
Genome Biol 2026· MayRead
Rare diseases — diagnosis by agentic AI system
PubMed★ Top pick
⭐ À la une
An agentic system for rare disease diagnosis with traceable reasoning
Rare diseases — diagnosis by agentic AI system
9
LLM appliedClinical pipeline
Nature, 2026· MarRead
Regulatory variants — functional effect prediction on chromatin, splicing and expression
PubMed★ Top pick
Advancing regulatory variant effect prediction with AlphaGenome
Regulatory variants — functional effect prediction on chromatin, splicing and expression
9
Pathogenicity predictionNew tool
Nature, 2026· JanRead
Missense variants — phenotype-specific pathogenicity prediction
PubMed★ Top pick
Phenotypic prediction of missense variants via deep contrastive learning
Missense variants — phenotype-specific pathogenicity prediction
9
Pathogenicity predictionNew tool
Nature Biomedical Engineering, 2026· AprRead
Long-read
PubMed★ Top pick
HiFi long-read RNA sequencing enhances clinical diagnostics in rare disorders
Rare diseases with suspected splicing variants — LRS vs SRS differential diagnostic yield
9
Long-readLong-read sequencingDiagnostic RNA-seq
European Journal of Human Genetics, 2026· MarRead
Automated variant interpretation (ACMG classification)
PubMedAAVC: an automated framework for high-accuracy ACMG-based variant classification.
Automated variant interpretation (ACMG classification)
8
New toolPathogenicity prediction
Genet Med 2026· JulRead
asms
PubMedasms: finding allele-specific methylation in human genomes without phasing.
Allele-specific methylation detection
8
Long-readNew toolLong-read sequencing
NAR Genom Bioinform 2026· JulRead
EviAnn
PubMedEfficient evidence-based genome annotation with EviAnn.
Evidence-based genome annotation
8
Algorithm benchmarkNew toolBenchmark
Nat Methods 2026· JulRead
TP53
PubMedA zero-parameter first-principles gate framework for full-length TP53 missense variant interpretation
Classification of *TP53* missense variants — first-principles approach
8
Pathogenicity predictionNew tool
PLoS Comput Biol 2026· JunRead
GPC3
PubMedA 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
8
Long-readLong-read sequencingSV caller
J Hum Genet 2026· JunRead
AIFM1
X-linkedPubMedNanopore-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
8
Long-readLong-read sequencingClinical pipeline
HGG Adv 2026· JunRead
Transcriptomics pipelines / diagnostic RNA-seq
bioRxivSTAR Suite: Transcriptomics processing in a single binary through AI-assisted development.
Transcriptomics pipelines / diagnostic RNA-seq
8
New toolClinical pipeline
bioRxiv 2026· JunRead
Long-read
bioRxivSWARM resolves nanopore signal interference between RNA modification types and reveals splicing-shaped pseudouridylation.
Epitranscriptomic modifications / direct RNA nanopore sequencing
8
Long-readNew toolLong-read sequencing
bioRxiv 2026· JunRead
Algorithm benchmark
PubMedEvaluating the role of pretraining dataset size and diversity on single-cell foundation model performance.
Single-cell foundation models / transcriptomics
8
Algorithm benchmarkNew toolBenchmark
Nat Methods 2026· JunRead
Algorithm benchmark
PubMedTowards robust foundation models for digital pathology.
Digital pathology / foundation model robustness
8
Algorithm benchmarkNew toolBenchmark
Nat Commun 2026· JunRead
SRY
PubMedCombined 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
8
New toolSV caller
Mol Cytogenet 2026· JunRead
G6PD
PubMedEvidence for G6PD variant classification from multiplexed functional assays.
G6PD deficiency
8
Algorithm benchmarkBenchmarkPathogenicity prediction
Genome Biol 2026· JunRead
ABCA7
PubMedGWAS on short tandem repeats identifies genetic mechanisms in Alzheimer's disease.
Alzheimer's disease
8
BenchmarkSV caller
Nat Commun 2026· JunRead
Long-read
bioRxivSWARM resolves nanopore signal interference between RNA modification types and reveals splicing-shaped pseudouridylation.
Epitranscriptome — RNA modifications
8
Long-readLong-read sequencingNew tool
bioRxiv 2026· JunRead
Long-read
PubMedHybrid 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
8
Long-readLong-read sequencingNew tool
Genome Biol 2026· JunRead
Autosomal dominant Alzheimer's disease (PSEN1/PSEN2/APP) — genetic modifiers
Autosomal dominantPubMedIdentification of genetic modifiers of autosomal dominant Alzheimer's disease: a genome-wide association study.
Autosomal dominant Alzheimer's disease (PSEN1/PSEN2/APP) — genetic modifiers
8
Benchmark
Lancet Neurol 2026· JunRead
Noncoding variant interpretation / transcriptional regulation
PubMedDecoding sequence determinants of gene expression in diverse cellular and disease states.
Noncoding variant interpretation / transcriptional regulation
8
Pathogenicity predictionNew tool
Nat Methods 2026· MayRead
Microhomology-mediated tandem duplication mechanism — clinical relevance for pathogenic CNVs
PubMedMicrohomology-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
8
SV callerNew tool
PNAS 2026· MayRead
Structural variants (SV) in diagnostic genetics — integrative OGM + short-read approach
PubMedIntegrative approach for delineating structural variants using optical genome mapping and short-read sequencing.
Structural variants (SV) in diagnostic genetics — integrative OGM + short-read approach
8
SV callerClinical pipeline
Mol Biol Rep 2026· MayRead
Long-read
PubMedPopulation-level structural variant characterization using pangenome graphs
Structural variants (SV) — population-level catalog via pangenome
8
Long-readSV caller
Nature Genetics, 2026· MarRead
Rare pediatric genetic diseases — undiagnosed after WES/short-read WGS
PubMedDiagnostic utility of clinical genome reanalysis in rare pediatric disorders using long-read sequencing
Rare pediatric genetic diseases — undiagnosed after WES/short-read WGS
8
Long-read sequencingGenomic reanalysis
HGG Advances, 2026· AprRead
Clinical pipeline
PubMedScaling genomic reanalysis to unlock diagnoses and transform rare disease care
Rare genetic diseases — optimization of diagnostic yield through systematic reanalysis
8
Clinical pipelineGenomic reanalysisDiagnostic yield
HGG Advances, 2026· AprRead
Long-read
PubMedTargeted long-read RNA sequencing for rare disease diagnosis and variant interpretation
Rare genetic diseases — variant interpretation by targeted long-read RNA-seq
8
Long-readLong-read sequencingDiagnostic RNA-seq
Science Advances, 2026· AprRead
Cancer detection from cell-free DNA (liquid biopsy)
PubMedGeneralizable cancer detection from ultra-low-pass WGS via deep contextual modeling of cfDNA sequences.
Cancer detection from cell-free DNA (liquid biopsy)
7
New toolBenchmark
Mol Biomed 2026· AugRead
Type 2 diabetes — cardiovascular and renal complications
JournalImproving the reliability of polygenic risk score-based prediction for cardiovascular and renal complications across ancestries in type 2 diabetes using Mondrian Cross-Conformal Prediction
Type 2 diabetes — cardiovascular and renal complications
7
New toolBenchmark
PLOS Comput Bio 2026· AugRead
Complex traits — gene-level association mapping
JournalIBAS: Interaction-bridged association studies discovering novel genes underlying complex traits
Complex traits — gene-level association mapping
7
New toolBenchmark
PLOS Comput Bio 2026· AugRead
RNUopathies and variant classification in snRNA genes
medRxivGuidance for clinical variant classification in genes for spliceosomal small nuclear RNAs.
RNUopathies and variant classification in snRNA genes
7
Clinical pipelineNew tool
medRxiv 2026· AugRead
Pathogenicity prediction for missense and synonymous variants
PubMedSIMLINK Enables Accurate Variant Pathogenicity Prediction through Modeling the Gene-Variant-Feature Association Structure.
Pathogenicity prediction for missense and synonymous variants
7
New toolPathogenicity prediction
Bioinformatics 2026· AugRead
JAG1
Autosomal dominantPubMedLikelihood-based calibration improves the clinical utility of JAG1 functional data for variant classification.
Alagille syndrome
7
Pathogenicity prediction
Am J Hum Genet 2026· JulRead
Clinical pipeline
PubMedPhenotype-guided etiologic workup in a prospective cohort of 144 adults with developmental and epileptic encephalopathy.
Developmental and epileptic encephalopathy in adults
7
Clinical pipelineClinical pipeline
Epilepsia Open 2026· AugRead
Algorithm benchmark
bioRxivA Reproducible MFASS Benchmark of Splice-Disruption Predictors Reveals a Shared Exon-Interior Blind Spot
Prediction of variant effects on splicing
7
Algorithm benchmarkBenchmarkPathogenicity prediction
bioRxiv 2026· JulRead
Long-read
PubMedA De Novo Algorithm for Allele Reconstruction from Oxford Nanopore Amplicon Reads, with Application to CYP2D6.
Allele reconstruction and diplotyping from long-read amplicon data
7
Long-readNew toolLong-read sequencing
Bioinformatics 2026· JulRead
MYBPC3
PubMedScaled Multidimensional Assays of Variant Effect Identify Sequence-Function Relationships in Hypertrophic Cardiomyopathy.
Hypertrophic cardiomyopathy
7
Long-readPathogenicity predictionLong-read sequencing
Circulation 2026· JulRead
Structural variant interpretation
bioRxivCoordinate- and Sequence-Based Features for a new Combined Annotation-Dependent Depletion Framework of Structural Variants (CADD-SV v2.0)
Structural variant interpretation
7
New toolPathogenicity prediction
bioRxiv 2026· JulRead
Algorithm benchmark
PubMedA systematic benchmark of bioinformatics methods for single-cell and spatial RNA-seq nanopore long reads data.
Single-cell and spatial transcriptomics
7
Algorithm benchmarkBenchmarkLong-read sequencing
NAR Genom Bioinform 2026· JulRead
Long-read
bioRxivsynpact: accurate, memory-light PacBio HiFi read mapping via a hierarchy of locally-consistent syncmer blocks
Long-read read mapping
7
Long-readNew toolLong-read sequencing
bioRxiv 2026· JulRead
Genomic sequencing — equitable access
PubMedA blended genome and exome sequencing method captures genetic variation in an unbiased and cost-effective manner.
Genomic sequencing — equitable access
7
New toolClinical pipeline
Nat Genet 2026· JulRead
Svirlpool
bioRxivSvirlpool: structural variant detection from long read sequencing by local assembly.
Structural variant detection (long-read, multi-sample)
7
Long-readSV callerLong-read sequencing
bioRxiv 2026· JunRead
Long-read
PubMedEpigenetic Liquid Biopsy Enables Universal Mutation-Agnostic Molecular Surveillance for High-Risk Neuroblastoma.
Molecular surveillance of high-risk neuroblastoma
7
Long-readClinical pipeline
Clin Cancer Res 2026· JulRead
Long-read
PubMedNear-perfect genome sequencing in medical genetics
Medical genetics — toward near-perfect genome sequencing (one-test paradigm)
7
Long-readLong-read sequencingClinical pipeline
Nat Genet 2026· JunRead
Algorithm benchmark
PubMedComprehensive comparison of homologous recombination deficiency predictors in early-stage triple-negative breast cancer
Triple-negative breast cancer — comparison of homologous recombination deficiency (HRD) predictors
7
Algorithm benchmarkBenchmarkPathogenicity prediction
Breast Cancer Res 2026· JunRead
Long-read
PubMedSpatially resolved m6A profiling across tissues using m6A-ARTR-DBiT.
Spatial epitranscriptomics / m6A modification
7
Long-readNew toolLong-read sequencing
Nat Methods 2026· JunRead
Newborn screening / genomics
PubMedGenomics to Enhance Newborn Screening?
Newborn screening / genomics
7
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
7
Algorithm benchmarkBenchmarkLLM applied
Nat Med 2026· JunRead
Preimplantation genetic testing for monogenic disorders (PGT-M)
PubMedSystematic 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)
7
BenchmarkClinical pipeline
Fertil Steril 2026· JunRead
Gastric cancer — early detection
PubMedCell-free DNA methylation biomarkers for the early detection and tumor burden monitoring of gastric cancer.
Gastric cancer — early detection
7
Clinical pipelineBenchmark
NPJ Precis Oncol 2026· JunRead
Long-read
PubMedLong-read sequencing bridges germline and somatic variant detection: a multi-modal approach for hereditary cancer diagnostics.
Hereditary cancer — multi-modal diagnosis
7
Long-readLong-read sequencingClinical pipeline
Clin Transl Oncol 2026· JunRead
Algorithm benchmark
PubMedBenchmarking next- versus third-generation sequencing in metagenomics: performance metrics and diagnostic efficacy.
Clinical diagnostic metagenomics
7
Algorithm benchmarkLong-read sequencingBenchmark
Microbiology Spectrum 2026· JunRead
Algorithm benchmark
PubMedA scalable approach to investigating sequence-to-function predictions from personal genomes.
Sequence-to-function prediction on personal genomes
7
Algorithm benchmarkNew toolBenchmark
Nat Methods 2026· JunRead
Multimodal bio-language model
bioRxivOmniGene-4: A Unified Bio-Language MoE Model with Router-Level Interpretability.
Multimodal bio-language model
7
LLM appliedNew tool
bioRxiv 2026· JunRead
Long-read
PubMedThird-Generation Nanopore Sequencing for Post-Transplant Chimerism Monitoring.
Post-hematopoietic stem cell transplantation chimerism monitoring — third-generation Nanopore sequencing
7
Long-readLong-read sequencingClinical pipeline
HLA 2026· JunRead
CNV pathogenicity prediction — deep learning model with image-based representation
bioRxivVision-Based Genomic Model for Copy Number Variant Pathogenicity Prediction.
CNV pathogenicity prediction — deep learning model with image-based representation
7
New toolPathogenicity prediction
bioRxiv 2026· MayRead
Long-read
bioRxivPersonalized reference genome-based pipeline reveals comprehensive haplotype-resolved views of cancer genomes.
Cancer genome analysis — pipeline based on personalized haplotype-resolved reference genome
7
Long-readNew toolLong-read sequencing
bioRxiv 2026· MayRead
Long-read
PubMedStringTie3 improves total RNA-seq assembly by resolving nascent and mature transcripts.
Diagnostic RNA-seq assembly / splicing isoforms
7
Long-readLong-read sequencingClinical pipeline
Nat Methods 2026· MayRead
Protein function prediction / functional genomics
PubMedAdvancing generative large language models toward discriminative performance in protein function prediction.
Protein function prediction / functional genomics
7
LLM appliedNew tool
Genome Biol 2026· MayRead
Algorithm benchmark
PubMedAnalyzing the performance of deep learning splice prediction algorithms.
Splicing variants (deep intronic)
7
Algorithm benchmarkBenchmarkPathogenicity prediction
PLoS ONE 2026· MayRead
Charcot-Marie-Tooth
PubMedCGG repeat expansions in Charcot-Marie-Tooth disease: insights from the 100 000 Genomes Project.
Unsolved Charcot-Marie-Tooth disease
7
Charcot-Marie-ToothBenchmark
Journal of Neurology Neurosurgery and Psychiatry 2026· MayRead
Rare neurogenetic disorders in Moroccan families — exome diagnosis and expanded genetic spectrum
PubMedExpanding the genetic spectrum of neurogenetic disorders in Moroccan families by exome sequencing.
Rare neurogenetic disorders in Moroccan families — exome diagnosis and expanded genetic spectrum
7
Clinical pipelineBenchmark
Mol Biol Rep 2026· MayRead
Algorithm benchmark
PubMedComprehensive evaluation of ACMG/AMP-based variant classification tools
Mendelian diseases — ACMG/AMP classification tool benchmark in real clinical context
7
Algorithm benchmarkACMG classificationBenchmark
Bioinformatics (Oxford), 2026· FebRead
Algorithm benchmark
PubMedSplicing Predictions, Splicing Assays, and Variant Classification Using ACMG/AMP Guidelines: Challenges Observed with BRCA1 and BRCA2 Variants
HBOC — reclassification of BRCA1/BRCA2 splicing variants
7
Algorithm benchmarkACMG classificationVUS reclassified
Clinical Chemistry, 2026· FebRead
Rare diseases — LLM use for genetic diagnosis and new gene discovery
PubMedGenetic Diagnosis and Discovery Enabled by Large Language Models
Rare diseases — LLM use for genetic diagnosis and new gene discovery
7
LLM applied
2026· AprRead
Clinical pipeline
PubMedOptical genome mapping enhanced by refined variant interpretation in pediatric acute lymphoblastic leukemia.
Paediatric B-cell acute lymphoblastic leukaemia
6
Clinical pipelineClinical pipelineSV caller
J Pathol 2026· AugRead
Long-read
PubMedDetecting pathogenic structural variation in families with undiagnosed rare disease in a national genome project.
Rare disease unsolved after short-read sequencing
6
Long-readLong-read sequencingSV caller
Eur J Hum Genet 2026· AugRead
Noncoding variant interpretation
PubMedMapping enhancer-gene regulatory interactions from single-cell data.
Noncoding variant interpretation
6
New toolBenchmark
Nat Genet 2026· AugRead
Inborn genetic diseases amenable to exon skipping
medRxivA scalable platform for exon-skipping antisense oligonucleotide therapy development for inborn genetic diseases
Inborn genetic diseases amenable to exon skipping
6
New tool
medRxiv 2026· JulRead
Missense variant classification in intrinsically disordered regions
PubMedEnhancing missense variant classification in predicted intrinsically disordered regions.
Missense variant classification in intrinsically disordered regions
6
New toolPathogenicity prediction
PLoS One 2026· JulRead
Long-read
PubMedBenchmarking 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
6
Long-readBenchmarkLong-read sequencing
medRxiv 2026· JulRead
Reference bias in preventive genome sequencing
PubMedBeyond the linear genome: how reference bias threatens preventive medicine and geroscience.
Reference bias in preventive genome sequencing
6
Clinical pipeline
Geroscience 2026· JulRead
Triage for rapid genome sequencing in neonatal intensive care
medRxivNeoGx: Machine-Recommended Rapid Genome Sequencing for Neonates
Triage for rapid genome sequencing in neonatal intensive care
6
New toolClinical pipeline
medRxiv 2026· JulRead
Long-read
PubMedAccuracy of nanopore sequencing technology for rapid diagnosis of tuberculous mediastinal and hilar lymphadenopathy.
Mediastinal tuberculosis — Nanopore sequencing diagnosis
6
Long-readLong-read sequencingClinical pipeline
BMJ Open 2026· MayRead
GPIHBP1
PubMedResolving 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)
6
Long-readSV callerClinical pipeline
Clinica Chimica Acta 2026· MayRead
Promoter prediction at single-nucleotide resolution
JournalEvoSNR-Prom: Predicting promoters at single-nucleotide resolution with label-aware transfer learning of the pretrained EVO model
Promoter prediction at single-nucleotide resolution
5
New toolLLM applied
PLOS Comput Bio 2026· AugRead
Identification of rare cell populations in single-cell transcriptomics
JournalRareCapsNet: An explainable capsule network enables robust discovery of rare cell populations from large-scale single-cell transcriptomics
Identification of rare cell populations in single-cell transcriptomics
5
New toolBenchmark
PLOS Comput Bio 2026· AugRead
Long-read
PubMedSimultaneous detection of thalassemia, hemoglobinopathies, and G6PD variants using long-read nanopore sequencing: genetic complexity and heterogeneity in Thailand.
Thalassemias, hemoglobinopathies and G6PD deficiency
5
Long-readLong-read sequencingClinical pipeline
PeerJ 2026· AugRead
Clinical pipeline
PubMedWhole genome sequencing in cerebral palsy: a UK paediatric pilot study.
Cerebral palsy in children
5
Clinical pipelineClinical pipeline
Lancet Reg Health Eur 2026· AugRead
Clinical pipeline
PubMedDisoPatho: A Cross-View Feature-Adaptive Interaction Encoding Framework for Predicting Disease-Associated Variants in Intrinsically Disordered Regions.
Disease-associated variants in intrinsically disordered regions
5
Clinical pipelineNew toolPathogenicity prediction
J Chem Inf Model 2026· JulRead
Long-read
medRxivSVkhor: a unified framework for structural variant integration across long-read, short-read, and optical genome mapping data
Structural variant genomic diagnosis
5
Long-readNew toolSV caller
medRxiv 2026· AugRead
Spatial tissue profiling
PubMedSequencing-free spatial profiling of post-transcriptional regulation in fresh tissues using nanoneedle arrays.
Spatial tissue profiling
5
New tool
Nat Biomed Eng 2026· JulRead
Algorithm benchmark
PubMedComparative evaluation of manual and automated ACMG/AMP variant classification: implications for clinical genetic practice.
Automated ACMG/AMP tools vs expert curation
5
Algorithm benchmarkBenchmarkPathogenicity prediction
Sci Rep 2026· JulRead
Standards and resources for the medical genome
PubMedHarmonizing standards and resources for the medical genome.
Standards and resources for the medical genome
5
Nature 2026· JulRead
Automated oncogenic variant interpretation
PubMedClassifying Clinical Evidence Levels of Cancer Variants in Biomedical Literature Using Machine Learning.
Automated oncogenic variant interpretation
5
LLM appliedBenchmark
Stud Health Technol Inform 2026· MayRead
Clinical pipeline
bioRxivSIEVE: Sparse Interpretable Exome Variant Explainer.
Variant prioritisation in exome case-control studies
4
Clinical pipelineNew tool
bioRxiv 2026· AugRead
Non-coding germline risk of lung cancer
bioRxivPGViS: Personal Genome Variant interpretation Score for lung cancer genomes.
Non-coding germline risk of lung cancer
4
New toolLLM applied
bioRxiv 2026· AugRead
