Genomics and Rare Diseases
Moving in bioRxiv, medRxiv, Frontiers in Genetics, Nature Genetics, Trends in Genetics, Genome Biology, Blood and eLife.
- Moved, week to 23 Oct 2026
- 0
- Papers in 60 days
- 103
Rebuilt
Moved this week
Nothing in this topic has moved yet this week.
Latest in Genomics and Rare Diseases
Newest first · last 60 days
GISMO and GISMO-mis, two mammalian constraint metrics, strongly correlate with human gene essentiality and identify critical genes missed by existing methods, especially short genes.
- Open access
Monoallelic variants in inborn errors of immunity often perturb signaling pathways rather than abolish gene function, highlighting complex system-level influences on disease expression.
DNACipher predicts the effects of genetic variants across 38,582 cell type/assay combinations, over six times more contexts than previous models, enabling comprehensive variant impact analysis.
- Open access
- 2 cites
cPRIME enables endogenous mapping of genetic variant effects at RNA level, revealing that synonymous marker edits can alter RNA processing in diverse genomic contexts.
- Open access
LOCALE achieves 4.5 times higher AUPRC than MetaGraph on petabase-scale DNA search with 10% genomic variation.
- Open access
Mapping significantly mutated regions to protein domains and structural features creates a proteo-genomics framework for interpreting cancer mutations beyond genes and hotspots.
Gene identity and exon position primarily predict synonymous-variant pathogenicity, with a simple distance-to-exon-junction feature outperforming neural models at 0.84 accuracy.
- Open access
High NPM1 variant allele frequency (VAF) above 31.44% predicts better survival in NPM1-mutated AML patients.
- Open access
MetaSVM, MetaLR, and ESM1b outperform traditional tools in predicting YWHAG missense variant pathogenicity, with MetaSVM showing the best overall performance.
- Open access
SNACKKSS predicts pharmacologic gene regulators with high accuracy, identifying protein-inhibiting compounds by integrating RNA-Seq and literature data.
- Open access
DIAGNO, an AI system, achieves 67% top-3 accuracy, surpassing neurologists' 63%, in diagnosing complex neurological disorders confirmed by neuropathology.
- Open access
A heterozygous missense variant c.391C>T (p.Arg131Cys) in FHL2 is linked to endocardial thickening in a 30-day-old infant with severe dilated cardiomyopathy.
- Open access
Embeddings from genome and protein language models can predict biological features like variant severity, boundaries, homology, and structure, offering high-resolution insights.
A human induced pluripotent stem cell line from a Kabuki syndrome 1 patient with a frameshift KMT2D mutation was established, enabling disease modeling.
- Open access
Add Genomics and Rare Diseases as an interest in JClub
Browse JClub
Journals this month
- bioRxiv6131
- medRxiv1703
- PNAS447
- Sci Adv354
- JAMA262
- Environ Res230
- BMJ182
- Environ Pollution165
- Nat Commun161
- Science141
- Nature138
- Lancet128
- Cell Rep120
- NEJM119
- mBio107
- Plant Cell Environ107
- Curr Biol106
- J Exp Bot106
Topics moving, week to 23 Oct 2026
- Single-cell and spatial transcriptomics6
- Neuroinflammation and Neurodegeneration Mechanisms5
- Bacteriophages and microbial interactions5
- Gut microbiota and health5
- Genomics and Phylogenetic Studies4
- Cancer Genomics and Diagnostics4
- Cancer Immunotherapy and Biomarkers4
- Alzheimer's disease research and treatments3
- Inflammatory Bowel Disease3
- Influenza Virus Research Studies3