Indian Journal of Genetics and Molecular Research

Artificial intelligence (AI) has emerged as a powerful tool in human genetics, enabling the analysis and interpretation of complex datasets generated by nextgeneration sequencing, single-cell profiling, and large population biobanks. Traditional statistical and computational methods struggle with the scale, noise, and heterogeneity of these data, whereas AI approaches, particularly machine learning (ML) and deep learning (DL), are uniquely suited to uncover hidden patterns and make clinically relevant predictions. Current applications of AI in genetics include identifying the possible effects of genomic mutations, data base genome mapping, genomic control, and association of different biological data. There has also been some progress in diagnostics of rare diseases, pharmacogenomics, genome-wide association studies (GWAS), and polygenic risk scores analysis. AI has also influenced precision medicine. The use of deep variant, alpha fold, and AI-aided clinical tools are important milestones to note in the arms of genomic medicine. Regardless of progress clinical decision support systems still face challenges like lack interpret interface, reproducibility of data, and equity issues related to privacy. This review aims to describe the dominions in the application AI to human genetics, success tracking, flaws and relief for AI stems from.

Protein translation is central to gene expression in the central nervous system (CNS) because it is the crucial process of converting messenger RNA (mRNA) into functional proteins, which are vital for the structure, function, and regulation of neurons and their circuits. Regulation of protein synthesis involves posttranscriptional modifications and coordination between transcription and mRNA turnover to enable rapid signaling and gene expression changes in cells of CNS. This process is highly regulated and essential for key CNS functions such as synaptic plasticity, learning, and memory. Impaired translation is linked to several CNS disorders. The present review covers basic areas of gene-regulation and deregulation to highlight the unique features of the mechanism and their relevance to CNS. Further, it updates on the current methods of detection, and CNS disorders with details of the mechanisms and proteins, pathways involved in brief. Finally, the potential of targeting the proteins and intermediates of the mechanism as therapeutic targets is discussed. In the post-Human genome sequencing era CNS disorders are implicated as major source of Human disorders. Novel methods to treat these disorders are need of the hour, thus the detail study of protein synthesis at all levels would enable positive leads towards this direction. The present review is a brief update of the current literature in this important area of biomedical research.

Background: A rare chromosomal anomaly, Wolf–Hirschhorn syndrome (WHS), which results from the deletion of 4p (4p). Case: The case was identified at AIIMS Raipur, Chhattisgarh. The diagnostic findings included a “Greek warrior helmet” appearance of the head, ptosis, and a flat nasal bridge. Discussion: We reported patients with submicroscopic deletions at 4p16.3. In the current case, the diagnosis was on the basis of karyotype and clinical features. Our results showed the importance of testing with the conventional karyotype.