SciLifeLab enables genome sequencing breakthrough

A research group at Karolinska Institutet has sucessfully mapped three extremely complex chromosome aberrations by using pieces from four different DNA analyses. The project has received support from the SciLifeLab Swedish Genomes program.

Researchers have spent two years trying to figure out what the genetic causes are for the severe symptoms that three individuals have experienced since they were young. Whole genome sequencing using the standard short read technique as well as studying the chromosomes under a microscope has been done without success. In the study, published in PLOS Genetics, the researchers used new whole genome sequencing techniques, which allowed them to take high resolution images of the chromosomes and to study longer DNA molecules.

“Combining the results helped us solve the puzzle. We managed to piece together the complete altered chromosome in one patient and the chromosomes involved in the two other cases”, says Anna Lindstrand, Docent at the Department of Molecular Medicine and Surgery at Karolinska Institutet, in a news article by Karolinska Institutet.

The Swedish Genomes program supports Swedish researchers to perform human whole genome sequencing to identify the genetic causes of disease with high health relevance. It is part of the SciLifeLab National Sequencing Projects.