Under this programme, results from an extensive computation analysis of the 1029 sequenced genomes from India were published recently.
The analysis led to the identification of 55,898,122 single nucleotide variants in the India genome dataset.
Comparisons with the global genome datasets revealed that 23% variants were unique and found only in the samples sequenced from India.
This emphasizes the need for an India centric population genomic initiative.
Genome data helps to classify variants involved in mendelian disorders and improve precision medicine outcomes.
The data can also enable the identification of markers for carrier screening,variations causing genetic diseases, prevention of adverse events and provide better diagnosis and optimal therapy through mining data of clinically actionable pharmacokinetic variants.
The data will allow researchers to build Indian-specific reference genome dataset.
This resource can provide useful insights for clinicians and researchers in comprehending genetics not only at the population level but at the individual level.
The Genomics for Public Health in India (IndiGen) programme is a CSIR initiated Program (April 2019).
It aims to undertake whole genome sequencingof thousands of individuals representing diverse ethnic groups from India.
The objective is to enable genetic epidemiology and develop public health technologies applications using population genome data.
Gene Sequencing: A genome is the DNA or sequence of genes in a cell. Most of the DNA is in the nucleus and intricately coiled into a structure called the chromosome. Every human cell contains a pair of chromosomes, each of which has three billion base pairs or one of four molecules that pair in precise ways.
The order of base pairs and varying lengths of these sequences constitute the “genes”. Sequencing a genome means deciphering the exact order of base pairs in an individual.
