Cyprus has begun using an advanced DNA testing method to identify the remains of Greek Cypriot soldiers and civilians who went missing during the Turkish invasion of 1974 after conventional techniques ...

Researchers at Texas Children's Neurological Research Institute (NRI) and Baylor College of Medicine have developed a powerful new tool within the Genome Aggregation Database (gnomAD) to sharpen the ...

A new laboratory method developed by researchers at Columbia University Vagelos College of Physicians and Surgeons may now help physicians more quickly diagnose patients with suspected genetic ...

High-throughput sequencing technologies have increasingly led to discovery of disease-causing genetic variants, primarily in postnatal multi-cell DNA samples. However, applying these technologies to ...

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 ...

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 ...

A new laboratory method developed by researchers at Columbia University Vagelos College of Physicians and Surgeons may now help physicians more quickly diagnose patients with suspected genetic ...

Scientists have developed a maternal blood test that detects thousands of genetic conditions in foetuses, offering a ...

A recent observational study published in Clinical Endocrinology in March 2026 demonstrates that a stepwise genetic testing ...