A Kochi-based laboratory has completed the full sequencing and analysis of the first Malayali personal genome, revealing the genetic diversity of the linguistic group and signalling a revolution in disease diagnosis and treatment.

The study by SciGenom Laboratories established that the Malayali is genetically similar to the Caucasians more than any other race on earth.

A detailed report on the analysis has been published after peer review by BMC Genomics, an international medical journal that identifies and pools research contributions in genomics. Investigators at SciGenom Labs had joined hands with Stephan C. Suschter's laboratory at Pennstate, USA, and others to analyse the genome sequencing data.

The report carries elaborate comparison of Malayali genome against other published genomes from other parts of the world. The study revealed that the gene sequence of the Malayali varies from Chinese and African genomes but stands closer to the Caucasian, a term denoting the white race.

Genetic diversity

According to the report, the availability of this genome and the variants identified is a first step in understanding the genetic diversity in the Indian subcontinent, a crucial factor in identifying clinically relevant changes. These changes, along with further studies on additional genomes from this region, should provide a comprehensive assessment of the disease burden in the Indian population, it concluded.

Dr. George Thomas, Director, SciGenom Labs, said this was the first complete sequencing of a South Asian Indian female (SAIF) genome. “The real challenge with regard to the data obtained from genome sequencing is its analysis for arriving at sound conclusions. The analysis enables listing out those genetic deformities and hidden diseases in an individual which would come out in future,” he said.

“So diseases such as cancer, diabetes, liver diseases, and Alzheimer’s would become predictable and there could be preventive treatment and personalised drugs. This is the field occupied by bioinformatics and India needs to develop a good number of experts in this field,” he said.

The sequencing and genotype data has been deposited at the European Genome-Phenome Archive, hosted by the European Bioinformatics Institute (EBI). The SAIF variant information could be viewed at http://gbrowse.scigenom.com. and the full report published by BMC Genomics was available at http://www.biomedcentral.com/1471-2164/13/440, a press note issued by SciGenom Laboratories said.