When was it launched?
January 2020
Funded by the Department of Biotechnology
Aim: To sequence 10,000 whole genomes from diverse Indian population groups.
What was the scope of the study?
Sampled 20,000 individuals, sequenced DNA of 10,074, and analyzed 9,772 genomes (after excluding 2 population groups).
Represented 83 population groups:
30 tribal & 53 non-tribal
Covered over 100 geographical locations
Included language diversity: Indo-European, Dravidian, Austro-Asiatic, Tibeto-Burman.
Who carried out the genome sequencing?
Centre for Brain Research (IISc), Bengaluru
CCMB, Hyderabad
IGIB, Delhi
NIBMG, Kolkata
GBRC, Gandhinagar
What kind of data was collected?
Blood samples
Phenotype data: height, weight, waist/hip circumference, blood pressure
Included parent-child pairs for detecting de novo mutations
What did the study find?
180 million mutations in total
130 million in autosomes
50 million in sex chromosomes (X & Y)
98% in non-coding regions of DNA
These variations can help trace evolutionary history and ancestral lineages
What is the role of endogamy?
All groups show high levels of endogamy
Led to population-specific disease-causing mutations
Such unique genetic patterns are amplified due to generations of isolated reproduction
What are the medical implications?
Enables precision medicine tailored to Indian genetic profiles
Helps in developing affordable diagnostic tools for early disease detection
Can guide public health policies targeting community-specific diseases
Why is this project significant?
Addresses the underrepresentation of Indian genetic diversity in global genomic studies (which are mostly Eurocentric)
Enhances India’s participation in global genomics research
Provides insights into population genetics, disease predisposition, and evolution.
COMMENTS