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.
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