rarevariant

Rarevariant refers to a genetic variation that is infrequently observed within a population. In the context of human genetics, this typically means a variant that is present in less than 1% of individuals in a given population. The identification and interpretation of rare variants are crucial in understanding the genetic basis of diseases, particularly rare diseases, as well as in characterizing individual genetic predispositions.

The significance of a rare variant can vary greatly. Some rare variants may have no discernible effect on an individual's health or phenotype, acting as benign variations. However, others can be pathogenic, meaning they directly contribute to the development of a disease. This is especially common in monogenic disorders, where a single rare variant can cause a significant health condition. Identifying these pathogenic rare variants is a primary goal in genetic diagnostics for many inherited diseases.

The study of rare variants presents unique challenges. Due to their low frequency, large sample sizes are often required to detect and statistically assess their association with a particular trait or disease. Furthermore, distinguishing between a benign rare variant and a pathogenic one can be complex, requiring a combination of computational prediction tools, functional studies, and segregation analysis within families. Advances in next-generation sequencing technologies have made it more feasible to identify and analyze rare variants across the genome, leading to a deeper understanding of genetic diversity and disease etiology.