Most human genes produce multiple protein isoforms through alternative splicing, with recent evidence showing these isoforms are widespread, biochemically distinct, and linked to disease.
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Trends in Genetics
Elsevier BV · Genomics & Bioinformatics · ISSN 0168-9525, 1362-4555
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Therapeutic germline gene editing could prevent inherited diseases, potentially transforming medicine from treatment to prevention at the embryo stage.
Transposable elements exhibit a mutation rate of 1.6 × 10^-3 gains per copy per generation, making them a significant source of genetic variation in genomes.
Six strategies effectively promote constructive dialogue and mutual understanding between scientific and spiritual communities on CRISPR and genetic technologies.
Primary care professionals need comprehensive genomics education and support to effectively deliver genomics-informed healthcare.
Loss-of-function variants in FNIP1, a mitochondrial energy expenditure suppressor, are linked to reduced cardiometabolic disease risk in over 1 million exomes.
DNA methylation offers a unifying framework to understand and differentiate complex chronic conditions like ME/CFS, LC, FM, and hEDS, which share overlapping symptoms.
Chromosome-scale genome engineering is advancing, enabling manipulation of entire chromosomes to better understand and address complex biological functions and diseases.
Condensins, topoisomerase IIα, and physical forces collaboratively drive dynamic mitotic chromosome assembly, with condensin-mediated looping being central to the process.
African genomes encompass over 1.4 billion individuals and contain more genetic variation than the rest of the world combined, yet only about 1% of genomes in major databases are of African ancestry.
Hologenomic interactions significantly enhance the evolvability of phenotypic complexity by expanding heritable variation and enabling novel traits in the holobiont system.
Gene regulatory network architecture influences evolvability, with recent advances enabling direct empirical testing of theoretical principles.
Circular RNAs (circRNAs) are highly stable, covalently closed RNAs that actively regulate the stability of other RNA molecules, including mRNAs and microRNAs.
Extensive within-species variation in piRNA-producing loci reveals mechanisms of piRNA emergence, diversification, and adaptation in animal gonads.
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Large-scale human population cohorts now integrate deep molecular profiling with real-world data at an unprecedented scale, transforming biomedical research.
Advanced sequencing technologies reveal extensive structural and nucleotide-level diversity in the SMN locus, impacting clinical understanding of spinal muscular atrophy.
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The fungal RIP hypermutator mechanism, targeting transposable elements, shares deep evolutionary roots across eukaryotes, highlighting conserved defense strategies.
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Generative genomic AI models pose significant safety risks, including data quality issues, biases, and dual-use concerns, especially in critical fields like medicine and pathogen engineering.
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Viral symbionts serve as high-resolution genetic tags, revealing recent invasion dynamics in non-native hosts with greater precision than host genomes alone.
Giant extrachromosomal elements over 1 Mb in size have been discovered in prokaryotes, revealing a new class of microbial mobile genetic elements.
Human DHX29 acts as a key reader of the mRNA stability code embedded within codons, revealing a new layer of genetic regulation.
Single-cell omics reveals key transcription factors that determine cell fate with diverse computational approaches.
Genotype-phenotype relationships in neurodevelopmental disorders are highly complex, with diverse clinical outcomes observed even among individuals with the same risk gene variants.
Histone tail mutants reveal key roles of chromatin in development and disease, with over 100 variants enabling direct functional analysis of chromatin marks.
Supercentenarians possess expanded, nonexhausted CD4+ cytotoxic T lymphocytes that maintain potent cytotoxicity, indicating an adaptive immune feature linked to extreme longevity.
Elongation hubs in transcription rely on a precise molecular 'tango' between ordered and disordered elements within RNA Pol II superassemblies.
Spatial transcriptomics methods enable detailed analysis of cell-cell communication, with 33 recent approaches categorized into three key types for tissue-level insights.
Evidence for epigenetic inheritance in humans remains unproven due to biological, methodological, and environmental complexities, despite its presence in other species.
FSHD demonstrates how a single genetic lesion can disrupt multiple cellular processes, affecting all levels of regulation in human biology.
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