The role of rare genetic variants among disease

A group of researchers are trying to discover how a person`s DNA is related to hereditary diseases, such as various types of cancer, Parkinson`s syndrome and Alzheimer`s disease. According to Marylyn Ritchie, associate professor of biochemistry and molecular biology at Penn State and director of the Center for Systems Genomics, genetic variations are extremely complicated to assess and determining heritability is also fruitless. It is considered that for the deep analysis of rare gene variations, millions of people are needed. The team of researchers is trying to discover new tools and algorithms for analyzing data. Instead of analyzing each DNA base independently, it is considered that it`s easier to do the analysis with a software program. “What we've done is written an algorithm and a software package to go with it that will - in an automated way - process all the sequence data that you have, annotate either what gene or region of the genome that sequence belongs to, whether it's in a coding or regulatory region, part of a pathway, in an evolutionarily conserved region or one that's undergoing natural selection, or if it's between genes, and then bin all of the variants together based on these different functional definitions”, says Ritchie.