London, Feb 3 (ANI): Scientists at Boston College are playing an integral role in the global effort to sequence 1000 genomes and move closer to understanding in fine detail how genetics influence human health and development.
The most comprehensive map to date of genomic structural variants has been assembled by analyzing 185 human genomes by Gabor Marth and his research team.
"The tools we have developed are being used to discover a biological reality that we could not see before," said Marth.
The goal is to understand the genetic make up of the earth's population by analyzing genome data from as many as 2,500 individuals in order to provide new insights into the development of the human race and to understand the links between the genome and human health.
"There are engineering, mathematical, and algorithmic challenges at every level," Marth added.
"We work to make sure our computational tools are performing well, make continuous improvements and process data in a timely fashion to send to our colleagues around the world."
The new map is built upon a range of structural variants, including 22,025 deletions, or missing pieces of DNA, and 6,000 insertions, pieces of DNA that have been added along the evolutionary journey, and tandem duplications.
It will play a crucial role in sequencing-based association studies, where this new understanding of human variation is applied to unlocking new ways to use the genome to understand the world's population and to inform the life and medical sciences.
"The eventual goal of studying the genotype is so we can understand how the specific genetic make-up of an individual is responsible for an individual phenotype, such as height or weight or susceptibility to disease," said Marth.
"The specific question of the 1000 Genome Project is how much divergence, or how much genetic variation, exists within different populations. That is the question we are trying to unravel."
The study is published in the Feb. 3 edition of the journal Nature. (ANI)