Genome sequence from 598 individuals belonging to 55 ethnic groups from India decoded

In the Dec 5th issue of journal Nature, scientists from National Institute of Biomedical Genomics, Kalyani, India, and MedGenome, Bangalore, India, along with collaborators of the GenomeAsia 100k consortium report genome sequences of 1,267 individuals that includes 598 individuals representing 55 ethnic groups that span the major language groups from the India subcontinent. This progress represents a significant step towards bridging the gap in our understanding of the underexplored genome variation found in the ethnically diverse groups in India. It is for the first time that this data will be available in public to be leveraged by experts that can help improve the healthcare outcomes significantly.

The ~3.0 million bases that make up the DNA sequence of our genomes provides a rich evolutionary archive of the similarities and differences between any two individuals. The sequence differences, though representing only ~0.1% of the genomes, contribute significantly to the observed differences between individuals. They also account for the differences in susceptibility to various diseases within and among population groups. These variations alter the risk for inherited disorders and also predicts adverse drug effects.

The over 63 million DNA variation reported by this project is an important resource for identifying disease relevant variants in Asian-Indians. Recently, Dr. V Mohan and colleagues at the Madras Diabetes Research Foundation, Chennai, as reported in BMC Medical Genetics, used the variation database from this study in their analysis and identified genetic alterations that contribute to maturity onset diabetes of the young (MODY) in southern India.
The practice of endogamy, marriage within select social or caste groups, over ~1000 years has led to a higher burden of population specific recessive disorders in India. ”The data from this study besides helping understand the population groups has already proved to be a great resource for disease gene discovery in an ongoing analysis of over 1500 familial inherited disorder cases” said Dr. Sekar Seshagiri, an author on the study and President, SciGenom Research Foundation, India.

Dr. Partha Majumder, distinguished Professor and Founder of the National Institute of Biomedical Genomics said, “This study is an exemplar of the power of international collaboration involving both the academia and the industry. The results of this study will spawn further collaborations to make biomedical genomics come of age in India.”

Mr. Sam Santhosh, CEO MedGenome and author on the paper added, “We have a great opportunity to apply genomics in India to understand, manage and treat diseases. Genomic analysis of our unique population groups and disease cohorts will lead to identification of genetic mutations and drug targets not just for India but for the whole world. The data from GenomeAsia 100k effort will help enhance our efforts in make cutting edge genomics accessible to Indians”.

About MedGenome

MedGenome ( is a genomics-driven research and diagnostics company with a mission to improve global health by decoding the genetic information contained in an individual’s genome. Its unique access to genomics data with clinical and phenotypic data provides insights into complex diseases at the genetic and molecular level to facilitate research in personalized healthcare. MedGenome is the market leader for genetic diagnostic testing in India.

About NIBMG:

The National Institute of Biomedical Genomics (NIBMG) was founded in 2009 in Kalyani, West Bengal, India. It is the first institute that has been established in India to accelerate genomics for health. The Institute has been conducting basic and translational research on genomics of various diseases including cancer, chronic diseases, infectious diseases (notably tuberculosis and dengue) and statistical & population genetics. The Institute is spearheading Indian national efforts on genomics of oral cancer as a member of the International Cancer Genome Consortium, and a major multi-institutional effort on systems medicine. Several members of the Institute who participate in GenomeAsia100K are internationally renowned population geneticists.

Author: ADmiNIstRAtoR