Genetics & genomics
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3,279 studies
- Response to: Autosomal Dominant TWNK Mutations more likely Manifest with Multisystem Disease than Isolated External Ophthalmoplegia
- Autosomal Dominant TWNK Mutations More Likely Manifest with Multisystem Disease than Isolated External Ophthalmoplegia
- A chromosome-scale genome assembly of the Swiss Lolium multiflorum ecotype Tremona reveals a scalable method to purge spurious duplications
- Clinical, Histological, and Genetic Characterization of a Large Cohort of 49 Patients With Nebulin‐Related Congenital Myopathy
- SABER: a multiparental tomato population leveraging wild relative diversity for high-resolution QTL mapping
- Identifying independent causal cell types for human diseases and risk variants
- A scalable microarrayed organoid platform for precision modeling of intestinal epithelial damage and recovery
- Response representation shapes AlphaGenome enhancer-gene prediction in human astrocytes
- GenomeCompendium: A database for the integrated analysis of repeats, assembly quality and functional content of complete prokaryotic genomes
- Distinct transcriptional logics of catechol siderophore transporters in Pseudomonas aeruginosa for efficient iron acquisition
- AAV-DJ enables efficient, function-preserving neuronal transduction for circuit interrogation in human cortical and thalamic organoids
- Transcriptomics of independent CRISPR-edited cell lines reveal ciliary-specific ARL13B dependent changes
- Multiple Eurasian Origins and Admixture Shaped the Genomic Legacy of the House Mouse Invasion in Africa
- Additional sectioning and AI‐assisted diagnosis reveal underdiagnosis of serous (pre)malignancies in fallopian tube specimen from BRCA1/2 carriers
- An Integrated Atlas of the Human Kidney Spanning Health and Diseases
- Genetic insights into the population structure and adaptive evolution of tea germplasm in Guangxi, China
- Functional deciphering of the fibrillin gene family in foxtail millet reveals a non-synonymous SNP associated with carotenoid accumulation
- Longitudinal clinical impact of dynamic variant re-classification on reproductive decision-making: a 3-year case study
- Conditionally Significant eQTL and TWAS Analyses Identify MsRD26 as a Major Candidate Positive Regulator of Salt Tolerance in Medicago sativa L
- Maternal diet and genetics shape the human milk metabolome
- Easy detection of CRISPR/Cas9-Induced Insertions, Deletions, and Substitutions in Rice Genes OsMADS26, OsRAC1 and OsNRT1.1b using SYBR Green qPCR and Robust HRM analysis in R software
- Targeted Germline Sequencing Identifies Ultra-Rare DDR Variants in High-Risk Prostate Cancer : Short title: Germline DDR Variants in High-Risk Prostate Cancer.
- Whole-genome resequencing identifies a novel SNP associated with lumbar vertebrae number in Dezhou donkeys
- Challenges and approaches to genetic variants of uncertain significance in clinical practice and research
- Community-level diversity of viral counter-defensomes