Mapping Unexplored Genome Region Could Boost Genetic Testing

Using advanced imaging techniques, researchers have mapped a region of the human genome that was once uncharted. This could prompt new genetic testing, as that region gives rise to a variety of diseases. The team, led by researchers from the University of Colorado Anschutz Medical Campus in conjunction with the University of California, San Francisco and Katholieke Universiteit Leuven in Belgium, used fiber-FISH (fluorescence in situ hybridization) mapping and Bionano optical mapping technologies to see long DNA molecules. They were able to discover “an unprecedented and extreme level of variability” between individuals and populations. Such differences are potentially hundreds of thousands to over two million base pairs...