A5103717957- Trace Elements in Health
- Heavy Metal Exposure and Toxicity
- Genomics and Rare Diseases
- Iron Metabolism and Disorders
- Neurological diseases and metabolism
- Extraction and Separation Processes
- Digital Filter Design and Implementation
- Chaos-based Image/Signal Encryption
- Hereditary Neurological Disorders
- Cellular Automata and Applications
- Advanced Electron Microscopy Techniques and Applications
- Advanced Steganography and Watermarking Techniques
- Engineering and Technology Innovations
- Spectroscopy and Chemometric Analyses
- Power System Optimization and Stability
- Neurogenetic and Muscular Disorders Research
- Advanced Chemical Sensor Technologies
- Biochemical Analysis and Sensing Techniques
- Olfactory and Sensory Function Studies
- Image Retrieval and Classification Techniques
- Remote-Sensing Image Classification
Institute of Genomics and Integrative Biology
2020-2025
Academy of Scientific and Innovative Research
2020-2024
Babasaheb Bhimrao Ambedkar Bihar University
2013
Pennsylvania State University
2006
Background Advances in Next Generation Sequencing have made rapid variant discovery and detection widely accessible. To facilitate a better understanding of the nature these variants, American College Medical Genetics Genomics Association Molecular Pathologists (ACMG-AMP) issued set guidelines for classification. However, given vast number variants associated with any disorder, it is impossible to manually apply all known variants. Machine learning methodologies offer way classify large...
Abstract Background Genomic variations associated with dystonia in Asian Indians remain largely unknown. Objectives To identify genomic alterations the Indian population using next generation sequencing approaches. Methods From September 2018 to December 2023, we enrolled 745 individuals including probands and family members, Movement Disorder Registry Biobank. Clinical demographic data were captured on a REDCap platform. We performed whole exome (WES) DNA specimens obtained from 267...
Wilson disease (WD) is one of the most prevalent genetic diseases with an estimated global carrier frequency 1 in 90 and a prevalence 30,000. The owes its genesis to Kinnier who described disease, caused by accumulation Copper (Cu) various organs including liver, central nervous system, cornea, kidney, joints cardiac muscle which contribute characteristic clinical features WD. A number studies have reported variants ATP7B gene from diverse ethnic geographical origins. recent advent...
ATP7A is a critical copper transporter involved in Menkes Disease, Occipital horn Syndrome and X-linked distal spinal muscular atrophy type 3 which are X linked genetic disorders. These rare diseases their epidemiology of the unknown. A number variants genes have been reported published literature as well databases, however, understanding pathogenicity requires data to be compiled unified format. To this end, we systematically from datasets. Each were evaluated for evidences with respect...
Wilson's disease (WD) results from pathogenic ATP7B gene variations, causing copper accumulation mainly in the liver, brain, and kidneys. In India, despite studies on variants, WD often goes undiagnosed, with prevalence, carrier rate, mutation spectrum remaining unknown. A multicenter study examined genetic variations among individuals of Indian origin via whole exome sequencing. The used InDelible structural variants calling pipeline conducted molecular dynamic simulations uncertain...
This protocol provides a reliable method for high-resolution electron microscopy of primary cultured hippocampal neurons, allowing detailed visualization lipid droplets at synaptic terminals.