Genetics & genomics
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3,284 studies
- Blended Phenotype Involving FBN1 and Novel PIGL Variants of Uncertain Significance: A Prenatal Case Report
- Rhizobial enzyme reveals pH-driven catalytic switching and ʟ-amino acid incorporation by ʟ,-transpeptidases
- Genomic forecasting for climate‐resilient fruit trees
- From junk to deleterious: Natural subtelomeric repeat amplifications impact fitness and cellular phenotypes in yeast
- Nucleotide diversity is a poor predictor of short-term adaptive potential
- Five‐Year Outcomes and Disease Trajectories in Moderate‐to‐Severe Ulcerative Colitis: A Korean Multicenter Inception Cohort
- simSOMA: a cell-lineage based simulator of the somatic VAF spectrum in plants
- From mountaintops to metacollections: using genomics to evaluate ex situ conservation collections. A case study from tropical montane cloud forest plants in Australia
- Active-learning-guided optimization of cell-free systems for genome-wide transcriptomic profiling reveals progressive layers of regulation
- Unsupervised Machine Learning of Inflammatory Bowel Disease Case Reports Reveals Decades of Evolving Research Themes
- Unveiling the Hidden Rules: Enhancing NMD Prediction for Protein-Truncating Variants
- Household insecticide uses and flea infestation in plague-endemic regions of Madagascar
- Optimizing progeny allocation strategies in breeding schemes while updating genomic prediction models.
- Cutaneous features of SDR9C7 variants in eight individuals with autosomal recessive nonsyndromic epidermal differentiation disorders
- Automated reanalysis of genomic data for rare disease diagnostics at scale
- A novel A-to-G mutation in circBDP1 alters adipocyte proliferation and differentiation and affects bovine carcass traits
- Cell geometry and membrane protein crowding constrain Escherichia coli growth rate, overflow metabolism, respiration, and maintenance energy
- Clinic-to-Mechanism: Unraveling in-depth molecular dysfunctions caused by a GluN2B C-Terminal deletion in developmental and epileptic encephalopathies
- RNAPII and XPC remodel the 3D genome for UV repair
- Facing Empathy: Reducing Facial-Differences Bias Through a Story
- Allostery is a widespread cause of loss-of-function variant pathogenicity
- Stable-Shift: Biologically Structured Prediction of Transcriptional Responses to Unseen Gene Perturbations
- Replication Study of ENPP1 Variants and Haplotypes Associated with Severe Obesity in a Greek Adult Population
- Harnessing genetic potential to advance sustainability in beef systems.
- Endemic but not eroded: Genomic distinctiveness and conservation genomics of the British swallowtail butterfly ( Papilio machaon britannicus )