International Genetics and Genomics of Diseases

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Emerging Trends in Genetics and Genomics Research

Emerging Trends in Genetics and Genomics Research Genetics and genomics research is rapidly evolving, driven by advances in high-throughput sequencing, computational biology, and precision medicine. Emerging trends include single-cell and spatial genomics, enabling researchers to explore cellular heterogeneity and tissue architecture with unprecedented resolution. CRISPR-based genome editing is expanding beyond gene knockout toward base and prime editing, offering safer and more precise therapeutic possibilities. Artificial intelligence and machine learning are increasingly integrated for variant interpretation, disease risk prediction, and multi-omics data integration. Additionally, population genomics , epigenomics , and gene–environment interaction studies are reshaping our understanding of complex diseases, while ethical, legal, and social considerations (ELSI) remain central as genomic data enters routine clinical practice. Genetics, Genomics, Single-cell genomics, Spatial trans...

Passenger Mutations

Passenger Mutations Passenger mutations are genetic alterations that arise during cancer development but do not provide a selective growth advantage to tumor cells. Unlike driver mutations, passenger mutations do not directly contribute to tumor initiation or progression; instead, they accumulate as a byproduct of genomic instability and repeated cell divisions. Although historically considered biologically neutral, recent studies suggest that some passenger mutations may influence tumor behavior indirectly by affecting cellular fitness, immune recognition, or treatment response. Passenger mutations are widely studied in cancer genomics to distinguish clinically relevant driver events from background mutational noise and to better understand tumor evolution. Passenger Mutations Cancer Genomics Somatic Mutations Driver vs Passenger Mutations Genomic Instability Tumor Evolution Mutational Burden Clonal Evolution Cancer Genome Molecular Oncology #PassengerMutations#CancerGenomi...

Genomic Instability in Cancer

Genomic Instability in Cancer Genomic instability refers to an increased tendency of cancer cells to acquire genetic alterations , including mutations , chromosomal rearrangements, copy number changes, and aneuploidy. It is a hallmark of cancer and plays a central role in tumor initiation, progression, and therapeutic resistance. Genomic instability arises from defects in DNA damage response pathways, impaired DNA repair mechanisms, replication stress, telomere dysfunction, and abnormal cell cycle control. These defects lead to the accumulation of oncogenic mutations and loss of tumor suppressor genes, driving clonal evolution and tumor heterogeneity. Understanding genomic instability is crucial for cancer diagnosis , prognosis, and the development of targeted and precision therapies. Genomic Instability, Cancer Genomics, DNA Damage, DNA Repair Defects, Chromosomal Instability, CIN, Microsatellite Instability, MSI, Mutational Burden, Copy Number Alterations, Tumor Heterogeneit...

Structural Variants Of DNA

Structural Variants Of DNA Structural variants (SVs) are large-scale alterations in the DNA sequence that typically involve segments greater than 50 base pairs. These variants include deletions, duplications, insertions, inversions, and translocations, which can significantly affect genome structure and gene function . Structural variants may disrupt genes , alter regulatory elements, or change gene dosage, thereby influencing phenotypic diversity and disease susceptibility. SVs play a crucial role in human genetic disorders , cancer genomics , and evolutionary biology. Advances in long-read sequencing and genome mapping technologies have greatly improved the detection and characterization of structural variants, enabling more accurate genome assembly and clinical interpretation. Structural Variants, DNA Structural Variation, Genomic Rearrangements, Deletions, Duplications, Insertions, Inversions, Translocations, Copy Number Variations, CNVs, Genome Instability, Human Genomics, Canc...

Third Generation Sequencing Platforms

Third Generation Sequencing Platforms Third-generation sequencing (TGS) platforms represent advanced DNA sequencing technologies capable of reading single DNA molecules in real time without the need for PCR amplification. These platforms generate ultra-long reads, often exceeding tens to hundreds of kilobases, enabling accurate detection of structural variants , repetitive regions, haplotypes, and epigenetic modifications. The two leading third-generation sequencing platforms are Pacific Biosciences (PacBio) , which uses Single-Molecule Real-Time (SMRT) sequencing to produce highly accurate long reads, and Oxford Nanopore Technologies , which sequences DNA or RNA by measuring electrical signal changes as molecules pass through nanopores. TGS platforms are widely applied in genomics, transcriptomics, metagenomics, and clinical research. Third Generation Sequencing, Long-Read Sequencing, Single-Molecule Sequencing, PacBio SMRT Sequencing, Nanopore Sequencing, Real-Time Sequen...

Frameshift Mutation Example Disease in Humans

Frameshift Mutation Example Disease in Humans A frameshift mutation is caused by the insertion or deletion of nucleotides in a gene sequence that is not a multiple of three, leading to a shift in the reading frame during protein translation. This alteration changes all downstream codons , often producing a truncated or nonfunctional protein.A well-known human disease caused by frameshift mutations is Duchenne Muscular Dystrophy (DMD) . In DMD, frameshift mutations occur in the dystrophin gene, resulting in the absence of functional dystrophin protein. This leads to progressive muscle weakness, loss of motor function, and severe complications affecting the heart and respiratory muscles. Because frameshift mutations drastically disrupt protein structure, they are commonly associated with severe genetic disorders . Frameshift Mutation, Duchenne Muscular Dystrophy, Genetic Disease, Insertion Mutation, Deletion Mutation, Reading Frame Shift, Dystrophin Gene, Truncated Protein, Loss of F...