Study Finds “Rare” Genetic Variants Aren’t So Rare

 


Today, in the online version of the journal Science, a comprehensive survey of human genetic variation sheds light on human diseases and demonstrates that rare genetic variants are not so uncommon after all. 


John N O V E M B R-E, senior author of the study and assistant professor of ecology, evolutionary biology, and bioinformatics at the University of California, Los Angeles (U C L-A), stated, "I knew there would be rare variation but had no idea there would be so much of it". 


A group of life scientists investigated 202 genes in 14,002 individuals. There are about 3 billion base pairs in the human genome; 864,000 of these pairs were studied by the researchers. Even though this is only a small portion of the genome, the 14,002 individuals in the sample are one of the largest ever used in a human sequencing study.


He stated, "Our findings suggest there are many, many places in the genome where one or a few individuals have something different". In general, it is surprising how common it is for the population to have a rare variant. 


While this study does not suggest a cure for a specific disease, it does suggest that disease in general may be caused by rare variants, and it is essential to concentrate on those variants when attempting to determine the genetic basis of disease. Finding out how diseases work and how to treat them is made easier by comprehending their genetic basis


One genetic variant appears every 17 bases, which is significantly higher than expected. There were 12 diseases among 10,621 people, including Alzheimer's disease, bipolar disorder, schizophrenia, osteoarthritis, and coronary artery disease; 3,381 individuals lacked any of the illnesses


According to the researchers, the study has significant implications for understanding the genetic basis of human disease. It is in line with the idea that a lot of diseases may be caused in part by rare variants. According to the researchers, the large number of genetic variants can be explained by human population growth


Researchers have determined that the mutation rates of 202 genes differ from one another. The number of genetic variants with a frequency greater than 0.5% is known as the mutation rate. Instead of being widespread, rare genetic variants are frequently restricted to few locations worldwide


"We are able to detect variants with a frequency of less than 0.5% thanks to our large sample size", he said. There are changes in the genetic code that are either "synonymous" (they don't change what a protein means)


"We are able to detect variants with a frequency of less than 0.5% thanks to our large sample size, and we see all of these variants that have never been seen before", he stated. The genetic variation that has been studied in the past has only been the tip of the iceberg; however, there is a vast amount of rare variation that has remained below our detection threshold. We can now see a more complete picture of human genetic diversity thanks to large sample sizes. 


There are changes in the genetic code that are either "synonymous" (they don't change what a protein means). 


He stated, "Among the rare variants, we observe many changes, and these are plausibly affecting disease in humans, albeit in ways that are not yet well understood". 


The Foundation provided funding for his investigation. His research focuses primarily on the development of statistical and theoretical approaches to the analysis of genomic-scale population genetic data

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