Human origin, migration drift and Selection
Human populations have undergone significant changes throughout history, with various migrations, admixtures, and natural selections contributing to the evolution of the species. The descendants of the early humans who migrated Out-of-Africa have expanded in number to six orders of magnitude and now inhabit most of the continents. The genomes of these populations contain a vast amount of information about this process, in the form of random mutations, recombination, and changes triggered by natural selection and pathogen pressure.
However, inferring this information from the gene pools of ancient and present-day human populations is a challenging task. To tackle this problem, computational tools are being used to analyze complete genomes and high-density genotype data. By tracing the signals of various migrations, admixtures, drift, and natural selections, researchers are gaining insights into how humans have evolved to combat pathogens-driven environmental stress during evolution.
This research is crucial in understanding the history of human populations and how they have adapted to survive in different environments. By uncovering the genetic changes that have occurred over time, we can better understand the current genetic makeup of modern humans and how we may continue to evolve in the future.
Disease Genetics in South Asia
Recent studies based on hundreds of thousands of genomewide data on Indian populations have shed light on their genetic uniqueness. The high level of endogamy and longer Runs of Homozygosity (RoH) among various populations of India suggest that the number of founders of these populations might have been limited. It is important to note that the structure of the South Asian population has been described as 'pockets of endogamy', which poses a challenge to medical genetics. This project aims to provide valuable empirical data that can be translated into disease genetics.
The high level of endogamy in Indian populations has led to an increased occurrence of recessive diseases in these communities. In fact, a recent study has found that among 81 populations studied, 14 populations with a population size over one million have experienced more extreme founder effects than the usual examples from Europe, such as the Finns and Ashkenazi Jews, who have extensively been studied for recessive diseases.
To tackle demographic, selection, and host-pathogen-specific questions in detail, an extensive in-house collaboration between researchers and medical doctors will analyze the genotype-phenotype information from genomewide as well as complete genome data (WGS). The ultimate goal of this project is to design an ultra-low-cost disease panel for the Indian communities that can effectively be used in diagnosis and genetic counseling. This panel will be based on the genetic information obtained from the analysis and will help in the diagnosis of a variety of diseases.
Forensics
In recent years, molecular forensic testing has made significant advancements with the development of standardized autosomal and Y-STR commercial kits. These kits are highly sensitive and can provide effective results even when working with a small amount of DNA. However, despite their effectiveness, STR markers have several limitations. For instance, if reference samples are unavailable, it can be virtually impossible to trace the biogeographical origin of the DNA sample.
Fortunately, there are alternative methods that can be used to overcome these limitations. For example, Genomewide or Next Generation Sequencing data can be highly effective in biogeographical ancestry profiling. However, the significant drawback of these high-resolution analyses is that they require a considerable amount of DNA, which is not always available in forensic investigations where less than 5ng of DNA is typically available.
To address these challenges, our team plans to develop a biogeographical ancestry panel using mass array technology. This innovative approach will enable us to generate highly efficient geographical mapping of unknown samples using the least amount of DNA possible. By doing so, we hope to overcome the limitations of current methods and provide more accurate and detailed forensic analyses.
COVID-19
The COVID-19 pandemic has had a profound impact on the world's economy and healthcare systems. The virus has spread across the globe in waves, with new variants emerging and increasing the mortality rate. As a result, many questions have arisen about how the virus interacts with its host and how people respond to it over time.
To address these issues, our team plans to draw on our extensive experience in phylogenomic and medical genetics. Our project has three main objectives. Firstly, we aim to investigate the genes responsible for differences in susceptibility to COVID-19 among different ethnic groups in India. Secondly, we will conduct regular surveillance tests, including serological, viral, and sewer tests, in Varanasi and surrounding areas to track the evolution of the virus and any subsequent waves. Finally, we will use cutting-edge omics technologies, molecular epidemiology, population genomics, phylogenetics, and health informatics strategies to analyze the genomes of the virus and other emerging pathogens.
By synthesizing data from the ground up, our project will generate a unique experimental platform. This will provide a wealth of molecular and phenotypic data that will be valuable to researchers, medical professionals, and the pharmaceutical and biotech industries. We believe that this information will help to discover new disease pathways, drug targets, and biomarkers for diagnosis and risk stratification. Ultimately, this will help deliver effective and efficient personalized medicine across the spectrum of COVID-19 and emerging pathogens.
Animal Domestication
Gyan Lab, investigates animal domestication, focusing on cow, goat, buffalow and pigs in India. Their research, published in Genome Biology and Evolution (2025), identifies India as a global pig domestication center, revealing three distinct lineages: a North Indian haplogroup indicating in-situ domestication (~5,000 YBP), a Northeast Indian lineage tied to East Asian migrations, and an Andaman lineage linked to Austroasiatic populations. Using mitochondrial genomics and archaeological data, the lab highlights India’s unique role in animal husbandry, complementing its human genetics research to uncover human-animal co-evolution.