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 ...

Diagnosing rare Mendelian disorders is a labor-intensive task, even for experienced geneticists. Investigators are trying to make the process more efficient using artificial intelligence. The team ...

A new review brings to light the pivotal role of ribonucleases (RNases) in shaping the molecular foundation of Mendelian disorders. These essential enzymes, known for maintaining RNA metabolism, are ...

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 ...

Non-coding RNA metabolism pathways disrupted upon mutations of the 12 selected RNases implicated in Mendelian diseases. SLFN14 was excluded as its mechanism of action has not yet been fully elucidated ...

Genetic variants that cause rare disorders may remain elusive even after expansive testing, such as exome sequencing. The diagnostic yield of genome sequencing, particularly after a negative ...

HOUSTON – (April 25, 2024) – Diagnosing rare Mendelian disorders is a labor-intensive task, even for experienced geneticists. Investigators at Baylor College of Medicine are trying to make the process ...