Recently preliminary findings of the GenomeIndia project were published in the journal Nature Genetics, showcasing significant insights into the genetic makeup of India’s diverse populations.
The genome sequence data are deposited in the Indian Biological Data Centre (IBDC).
Indian Biological Data Centre (IBDC)
- IBDC is India’s first national repository dedicated to archiving life science data generated from publicly funded research.
- It is established at the Regional Centre for Biotechnology (RCB), Faridabad, supported by the Department of Biotechnology (DBT), and developed in collaboration with the National Informatics Centre (NIC).
Objectives of IBDC
- Data Archiving: IBDC provides a robust IT platform to securely and perpetually archive biological data generated across India.
- Data Management and Standards: It focuses on developing Standard Operating Procedures (SOPs) for data storage and sharing, following the FAIR (Findable, Accessible, Interoperable, and Reusable) principles.
- Data Quality and Accessibility: The centre ensures quality control, curation, annotation, backup, and complete life cycle management of biological data, along with creating web-based tools and APIs for efficient data sharing and retrieval.
- Capacity Building: IBDC organizes training programs on big data analysis and promotes awareness about the benefits of data sharing.
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GenomeIndia Project
- GenomeIndia is an initiative of the Department of Biotechnology (DBT),started on 3rd January 2020.
- Collaborative Effort: The project involves collaboration among 20 institutions, with genome sequencing carried out at major centers such as IISc Bangalore, CSIR-CCMB Hyderabad, IGIB Delhi, NIBMG Kolkata, and GBRC Gandhinagar.
- Under the project Blood samples were collected from around 20,000 individuals across India.
- Whole genome sequencing was performed on DNA from 10,074 individuals, covering 85 populations, including 32 tribal and 53 non-tribal groups.
Genetic Variants
- Definition: Genetic variants are differences or alterations in the DNA sequence among individuals.
- These changes can involve a single DNA building block (nucleotide) or larger segments of a chromosome.
- Types and Effects: Variants can be common or rare and may influence traits such as appearance, disease risk, or drug response.
- Some have no noticeable effect, while others can cause or protect against diseases.
- Importance: Studying genetic variants helps scientists understand human diversity, disease mechanisms, and develop personalized treatments and diagnostic tools.
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Findings of the GenomeIndia Project
- Genetic Data: After excluding two populations, genome sequence data from 9,772 individuals, comprising 4,696 males and 5,076 females were analyzed.
- Diverse Population Coverage: The genomes of different ethnic groups such as Tibeto-Burman, Indo-European, Dravidian, and Austro-Asiatic tribes, as well as their non-tribal counterparts, were sequenced.
- Data Repository: The collected genome sequence data have been stored in the Indian Biological Data Centre (IBDC) located at the Regional Centre for Biotechnology in Faridabad, Haryana.
- Genetic Variants: Sequencing revealed 180 million genetic variants. Of these, 130 million are located on the 22 pairs of autosomes (non-sex chromosomes), and 50 million are found on the X and Y sex chromosomes.
- Types of Variants Identified: Variants include those associated with diseases, rare variants, variants unique to India, and variants specific to certain communities or small populations.
Significance of the Findings
- Health and Medicine: Researchers aim to identify functionally significant variants related to disease susceptibility, therapeutic responses, and adverse reactions to treatments.
- Diagnostic and Personalized Medicine: The data could facilitate the development of low-cost diagnostic kits and propel personalized medicine initiatives in India by predicting disease risks and drug responses.
- Adaptation Studies: Certain genetic variants may provide insights into human adaptations to environmental factors such as high altitudes and low oxygen levels.
Future Research Directions
Efforts are underway to construct a panel of important variants to aid in future genotyping studies and to deepen understanding of disease-genetics associations in the Indian population.
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