Recently, a significant advancement was made in the field of genetic analysis in India. The results from the computation analysis of 1029 sequenced genomes from India were recently published in the scientific journal, Nucleic Acid Research. The analysis revealed that out of 55,898,122 single nucleotide variants in India, 18,016,257 (32.23%) are unique and found only in the samples sequenced from India. This finding emphasizes the importance of an India-centric population genomic initiative.
The Analysis Team
This groundbreaking analysis was undertaken by CSIR’s constituent labs, namely the Institute of Genomics and Integrative Biology (IGIB) in Delhi, and the Centre for Cellular and Molecular Biology (CCMB) based in Hyderabad.
IndiGenomes Resource Database
A key component of the genomics initiative is the IndiGenomes Resource Database. It includes genomic data from over 1000 whole genome sequences collected from across India as part of the IndiGen programme. This data represents the genetic diversity of multiple geographies and ethnicities across the country.
The IndiGen Programme was launched in April 2019. Its primary objective has been to enable genetic epidemiology and develop public health tech applications using population genome data.
Beneficial Insights from the Genomic Data
The database provides access to over 55 million genetic variants which represent the contemporary Indian population. One of its main goals is to classify variants that cause Mendelian disorders and improve precision medicine outcomes. It can lead to the identification of markers for carrier screening, variations causing genetic diseases, prevention of adverse events, and better diagnosis and optimal therapy through data analysis.
The Need for the IndiGen Programme
India’s rich genetic diversity has been under-represented in global genome studies despite being home to an array of recessive alleles. The peculiar population architecture in the country needs to be studied thoroughly. However, the lack of large-scale whole genome studies from India means that population-specific genetic variants are not adequately captured and catalogued in global medical literature. To address this gap, CSIR initiated the IndiGen Programme.
Understanding the Concept of Genome
A genome is all the genetic matter present in an organism. It refers to an organism’s complete set of Deoxyribose Nucleic Acid (DNA), including all of its genes. Each genome contains all of the information needed to build and maintain that organism. In humans, a copy of the entire genome contains more than 3 billion DNA base pairs.
The Significance of Genome Sequencing
Genome sequencing is the process of figuring out the order of DNA nucleotides or bases in a genome. It unravels the order of Adenine, Cytosine, Guanines, and Thymine in an organism’s DNA. Genome sequencing is crucial for advancements in medical science like predictive diagnosis, precision medicine, genomic information, and disease management. Through genome sequencing methodology, researchers and clinicians can easily detect diseases related to genetic disorders.
The Importance of Studying Entire Genome Sequences
The study of entire genome sequences can help understand how the genome as a whole works—how genes work together to direct the growth, development, and maintenance of an entire organism. Knowing the entire genome sequence can help scientists study the parts of the genome outside the genes, which account for less than 25% of the DNA in the genome.
