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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
/10
BenchmarkClinical pipeline
Genome Biol 2026· MayRead
AgentIA
PubMed★ Top pick
An agentic system for rare disease diagnosis with traceable reasoning
Rare diseases — diagnosis by agentic AI system
9
/10
LLM appliedClinical pipeline
Nature, 2026· MarRead
AlphaGenome
PubMed★ Top pick
Advancing regulatory variant effect prediction with AlphaGenome
Regulatory variants — functional effect prediction on chromatin, splicing and expression
9
/10
Pathogenicity predictionNew tool
Nature, 2026· JanRead
PheMART
PubMed★ Top pick
Phenotypic prediction of missense variants via deep contrastive learning
Missense variants — phenotype-specific pathogenicity prediction
9
/10
Pathogenicity predictionNew tool
Nature Biomedical Engineering, 2026· AprRead
HiFi 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
/10
Long-readLong-read sequencingDiagnostic RNA-seq
European Journal of Human Genetics, 2026· MarRead
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
8
/10
SV callerNew tool
PNAS 2026· MayRead
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
8
/10
SV callerClinical pipeline
Mol Biol Rep 2026· MayRead
PubMed
Driver gene mutations predicted by pathology-foundation-model and their clinical associations.
Driver gene mutation prediction by pathology foundation model — clinical associations in oncogenomics
8
/10
LLM appliedClinical pipeline
Zhonghua Bing Li Xue Za Zhi 2026· MayRead
Pangenome
PubMedPopulation-level structural variant characterization using pangenome graphs
Structural variants (SV) — population-level catalog via pangenome
8
/10
Long-readSV caller
Nature Genetics, 2026· MarRead
LRS Réanalyse
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
/10
Long-read sequencingGenomic reanalysis
HGG Advances, 2026· AprRead
Réanalyse Dx
PubMedScaling genomic reanalysis to unlock diagnoses and transform rare disease care
Rare genetic diseases — optimization of diagnostic yield through systematic reanalysis
8
/10
Clinical pipelineGenomic reanalysisDiagnostic yield
HGG Advances, 2026· AprRead
Long-read RNA-seq
PubMedTargeted long-read RNA sequencing for rare disease diagnosis and variant interpretation
Rare genetic diseases — variant interpretation by targeted long-read RNA-seq
8
/10
Long-readLong-read sequencingDiagnostic RNA-seq
Science Advances, 2026· AprRead
Algorithm benchmark
PubMedAnalyzing the performance of deep learning splice prediction algorithms.
Splicing variants (deep intronic)
7
/10
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
/10
Charcot-Marie-ToothBenchmark
Journal of Neurology Neurosurgery and Psychiatry 2026· MayRead
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
7
/10
Clinical pipelineBenchmark
Mol Biol Rep 2026· MayRead
Franklin
PubMedComprehensive evaluation of ACMG/AMP-based variant classification tools
Mendelian diseases — ACMG/AMP classification tool benchmark in real clinical context
7
/10
Algorithm benchmarkACMG classificationBenchmark
Bioinformatics (Oxford), 2026· FebRead
SpliceAI
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
/10
Algorithm benchmarkACMG classificationVUS reclassified
Clinical Chemistry, 2026· FebRead
LLM
PubMedGenetic Diagnosis and Discovery Enabled by Large Language Models
Rare diseases — LLM use for genetic diagnosis and new gene discovery
7
/10
LLM applied
2026· AprRead
GPIHBP1
Autosomique récessifPubMedResolving 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
/10
Long-readSV callerClinical pipeline
Clinica Chimica Acta 2026· MayRead
Week of 20 May 2026
3 articles
PubMed
Analyzing the performance of deep learning splice prediction algorithms.
Splicing variants (deep intronic)
7
/10
BenchmarkPathogenicity prediction
PLoS ONE 2026· MayRead
GPIHBP1
Autosomique récessifPubMedResolving 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
/10
SV callerClinical pipeline
Clinica Chimica Acta 2026· MayRead
PubMed
CGG repeat expansions in Charcot-Marie-Tooth disease: insights from the 100 000 Genomes Project.
Unsolved Charcot-Marie-Tooth disease
7
/10
Benchmark
Journal of Neurology Neurosurgery and Psychiatry 2026· MayRead
Week of 13 May 2026
5 articles
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
/10
BenchmarkClinical pipeline
Genome Biol 2026· MayRead
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
8
/10
SV callerNew tool
PNAS 2026· MayRead
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
7
/10
Clinical pipelineBenchmark
Mol Biol Rep 2026· MayRead
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
8
/10
SV callerClinical pipeline
Mol Biol Rep 2026· MayRead
PubMed
Driver gene mutations predicted by pathology-foundation-model and their clinical associations.
Driver gene mutation prediction by pathology foundation model — clinical associations in oncogenomics
8
/10
LLM appliedClinical pipeline
Zhonghua Bing Li Xue Za Zhi 2026· MayRead
Week of 6 May 2026
11 articles
AgentIA
PubMed★ Top pick
An agentic system for rare disease diagnosis with traceable reasoning
Rare diseases — diagnosis by agentic AI system
9
/10
LLM appliedClinical pipeline
Nature, 2026· MarRead
AlphaGenome
PubMed★ Top pick
Advancing regulatory variant effect prediction with AlphaGenome
Regulatory variants — functional effect prediction on chromatin, splicing and expression
9
/10
Pathogenicity predictionNew tool
Nature, 2026· JanRead
PheMART
PubMed★ Top pick
Phenotypic prediction of missense variants via deep contrastive learning
Missense variants — phenotype-specific pathogenicity prediction
9
/10
Pathogenicity predictionNew tool
Nature Biomedical Engineering, 2026· AprRead
HiFi 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
/10
Long-read sequencingDiagnostic RNA-seq
European Journal of Human Genetics, 2026· MarRead
Pangenome
PubMedPopulation-level structural variant characterization using pangenome graphs
Structural variants (SV) — population-level catalog via pangenome
8
/10
SV caller
Nature Genetics, 2026· MarRead
LRS Réanalyse
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
/10
Long-read sequencingGenomic reanalysis
HGG Advances, 2026· AprRead
Réanalyse Dx
PubMedScaling genomic reanalysis to unlock diagnoses and transform rare disease care
Rare genetic diseases — optimization of diagnostic yield through systematic reanalysis
8
/10
Genomic reanalysisDiagnostic yield
HGG Advances, 2026· AprRead
Franklin
PubMedComprehensive evaluation of ACMG/AMP-based variant classification tools
Mendelian diseases — ACMG/AMP classification tool benchmark in real clinical context
7
/10
ACMG classificationBenchmark
Bioinformatics (Oxford), 2026· FebRead
SpliceAI
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
/10
ACMG classificationVUS reclassified
Clinical Chemistry, 2026· FebRead
LLM
PubMedGenetic Diagnosis and Discovery Enabled by Large Language Models
Rare diseases — LLM use for genetic diagnosis and new gene discovery
7
/10
LLM applied
2026· AprRead
Long-read RNA-seq
PubMedTargeted long-read RNA sequencing for rare disease diagnosis and variant interpretation
Rare genetic diseases — variant interpretation by targeted long-read RNA-seq
8
/10
Long-read sequencingDiagnostic RNA-seq
Science Advances, 2026· AprRead