Mendelian (or, monogenic) disorders like sickle cell anaemia or cystic fibrosis occur due to mutations in a single gene. While there are currently over 7,000 known Mendelian disorders, many lack ...

Despite rapid advances in genetic testing over recent decades, about half of people with a suspected Mendelian genetic disorder have no accurate diagnosis, while others may have to wait years for ...

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. Despite rapid ...

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 ...