variantsanalüüs

Variantsanalüüs, often translated as variant analysis or variant interpretation, is a crucial step in the field of genomics and bioinformatics. It involves the examination and classification of genetic variations within an individual's DNA sequence. These variations, also known as variants, can range from single nucleotide polymorphisms (SNPs) to larger insertions, deletions, or rearrangements.

The primary goal of variantsanalüüs is to determine the potential impact of these identified genetic changes. This is particularly important in clinical settings, such as diagnosing genetic disorders or predicting disease susceptibility. Researchers analyze variants by comparing them to known databases of genetic information, such as those containing variants associated with specific diseases or populations.

Key aspects of variantsanalüüs include assessing the frequency of a variant in the general population, its predicted effect on protein function (if it occurs in a gene), and its association with any observed phenotypes or symptoms. Computational tools and algorithms play a significant role in automating and refining this process, helping to sift through the vast amount of genetic data generated by sequencing technologies. The ultimate aim is to distinguish between benign variations and those that are clinically significant, contributing to a better understanding of human health and disease.