Bioinformatics Week

Genomic variation is a main focus of research because it has a big impact on the well-being of individuals. Because we now have such large volumes of genomic data, there is more interest in comparing sequences of individuals in similiar and different populations. This, in turn, gives us better insight into the propagation of certain genetic disorders in society. One type of genetic variation is a polymorphism, which is generated from some type of individual mutational change (insertion, deletion, etc.). Most polymorphisms are eliminated from the population, but some can become fixed in a population. A SNP is a variation of a single nucleotide. Other variations include copy number variants and structural variations. It is a pretty daunting task to identify all the types of changes (neutral or harmful) in a genome because they can occur in just a single nucleotide, a larger portion of a gene, several genes, parts of one chromosome, or even multiple chromosomes. We will need very powerful tools in the future to detect tiny variations in disorders that are hard to pinpoint one root cause/loci--like cancer.

Posted by Annie