Sequencing technique searches for complex genomic variants to provide accurate diagnosis within hours

The KAUST-developed technology uses simple molecular biology strategies to seek out the genomic regions that are suspected of harboring complex mutations, deletions or rearrangements. Credit: 2024 KAUST. Despite rapid advances in genetic testing in recent decades, more than half of people worldwide with suspected Mendelian genetic disorders do not have an accurate molecular diagnosis. Others endure more than six years of tests before a diagnosis is given. Now, KAUST researchers and scientists across Saudi Arabia have developed NanoRanger, an accurate and rapid method for genetically diagnosing such diseases in a few hours. The study is published in the journal Med. Read More