Detection of elusive DNA copy-number variations in hereditary disease and cancer through the use of noncoding and off-target sequencing reads

Copy-number variations are a type of DNA variants that can lead to genetic disease and cancer. Because of important technical limitations, they are usually difficult to identify. We have created a software, OFF-PEAK, which makes use of data that are discarded by conventional procedures to efficiently detect these particular variants.

Source: The American Journal of Human Genetics - March 25, 2024 Category: Genetics & Stem Cells Authors: Mathieu Quinodoz, Karolina Kaminska, Francesca Cancellieri, Ji Hoon Han, Virginie G. Peter, Elifnaz Celik, Lucas Janeschitz-Kriegl, Nils Sch ärer, Daniela Hauenstein, Bence György, Giacomo Calzetti, Vincent Hahaut, Sónia Custódio, Ana Cristina Sousa, Tags: Article Source Type: research