International Genetics and Genomics of Diseases

Neurogenetics And Neuropsychiatric Disorders Neurogenetics and neuropsychiatric disorders is an interdisciplinary field that explores how genetic variation influences brain development, neural function, and behavior, contributing to psychiatric and neurological conditions. It integrates genomics , molecular neuroscience, psychiatry, and bioinformatics to uncover genetic risk factors , gene–environment interactions, and molecular pathways underlying disorders such as schizophrenia, autism spectrum disorder, bipolar disorder , major depressive disorder, epilepsy, and neurodegenerative diseases. Advances in next-generation sequencing , polygenic risk scoring, and functional genomics have enhanced understanding of disease mechanisms, enabled early diagnosis, and supported the development of personalized and precision-based therapeutic strategies for neuropsychiatric conditions. Neurogenetics, Neuropsychiatric disorders, Psychiatric genetics, Brain disorders, Behavioral genetics, Genomic...

Mendelian Genetics And Inheritance Patterns Mendelian genetics is the foundational framework of classical genetics that explains how traits are inherited from parents to offspring. Based on the pioneering experiments of Gregor Mendel, it describes inheritance through discrete units called genes , which exist in alternative forms known as alleles . Mendelian inheritance patterns—such as autosomal dominant, autosomal recessive, X-linked, and Y-linked inheritance—predict how genetic traits and disorders are transmitted across generations. These principles are essential for understanding genetic variation , diagnosing inherited diseases, genetic counseling, and interpreting pedigree analyses. Mendelian genetics continues to serve as the cornerstone for modern genetics, molecular biology, and medical genomics . Mendelian genetics, inheritance patterns, alleles, dominant traits, recessive traits, genotype, phenotype, autosomal inheritance, X-linked inheritance, Y-linked inheritance, pedig...

Long-Read Sequencing Long-read sequencing is an advanced DNA and RNA sequencing approach that generates reads typically ranging from several kilobases to over 100 kilobases in length. Unlike short-read technologies, long-read sequencing enables accurate resolution of repetitive regions, structural variants, haplotypes, and complex genomic rearrangements. This technology has transformed genome assembly, transcriptome profiling, and epigenetic analysis by providing more contiguous and biologically informative sequences. Major long-read sequencing platforms include Pacific Biosciences (SMRT sequencing) and Oxford Nanopore Technologies , both of which allow real-time, single-molecule sequencin g without PCR amplification. Long-read sequencing is increasingly applied in clinical genomics , cancer research, and population studies. Long-Read Sequencing Single-Molecule Sequencing Genome Assembly Structural Variant Detection Haplotype Phasing Epigenetic Analysis Transcriptomics PacBio SMRT...

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 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 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...