Genetics & genomics
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3,279 studies
- Causal variant underestimation is a major overlooked driver of sequence-to-function model underperformance
- Structures of MeCP2 bound to nucleosomes reveal distinct mechanisms of Rett syndrome mutations
- Chromosome-Level Nuclear Genome of Simulium vittatum Links Black Fly Cytogenetics to Genome Organization and Evolution
- A Human Accelerated Region Drives Opposing Heterochronic Changes in Craniofacial and Limb Development
- Access to Genetic Testing in Patients With Suspected Genetic Kidney Disease in Europe.
- Cis-Attenuation of Pathogenic Scn8a Variant Causing Childhood Epilepsy Reveals Opposing Transcriptional Programs Driving NaV1.6 Gain and Loss of Function Phenotypes
- A Transformer-Based Delta Expression Encoder for Psilocybin Transcriptional Response: Architecture, Representations, and Biological Validation
- Bimekizumab for Darier disease: A case report highlighting dual IL-17A and IL-17F inhibition as a potential treatment.
- GH1-HMGA proteins restrict RNA-directed DNA methylation and antagonize linker histone H1 at euchromatic transposable elements
- Dual plasmepsin IX and X inhibitors are refractory to development of resistance
- The highly heterozygous European amphioxus (Branchiostoma lanceolatum) at the edge of panmixia
- Fission yeast RPA–TERT–Tpz1TPP1 complex promotes telomere extension and suppresses telomere recombination
- Development of a low-coverage whole genome sequencing screen for apomixis using a diverse set of Malus germplasm
- FM-GPT: Bayesian fine mapping for phenome-wide transcriptome-wide association studies
- Complete disruption of gD binding to HVEM alters virus replication and host receptor homeostasis
- Divergent biological consequences of APOE isoforms across industrialized and non-industrial environments
- Direct whole-genome sequencing of Coxiella burnetii from environmental samples using a two-step selective enrichment approach
- Mitochondrial phylogeography and insecticide resistance of Aedes aegypti in Kenya
- Population genomics reveals multi-scale mechanisms sustaining schistosomiasis re-emergence in a near-elimination setting
- Characterization of DNA methylation in PBMCs and donor-matched iPSCs shows age-related methylation is reset during stem cell reprogramming
- Comparative prevalence of the mercury resistance gene merA in human feces, food, and environmental water from Japan, Vietnam, and Ghana
- Puerarin attenuates polystyrene (PS-MPs) induced oxidative stress, apoptosis and DNA damage in a Rat model
- Transposon insertion sequencing of Pseudomonas aeruginosa identifies multiple intersecting pathways essential for extreme colistin resistance
- Combination of alitretinoin and topical 5-fluorouracil in Darier disease
- An AAV8 Mutant with Better Transduction in Murine Muscle and Nasal Airway Than AAV8