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 ...

While non-invasive prenatal testing (NIPT) has revolutionised prenatal diagnostics by allowing the detection of a number of ...

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 ...

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 ...

Genetic screening in the wake of new therapies will identify more at-risk relatives ...

While noninvasive prenatal testing (NIPT) has revolutionized prenatal diagnostics by allowing the detection of a number of genetic problems in a fetus, it is currently limited and thus misses many ...

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 ...

The treatment of clinical depression presents unique challenges, with many patients voicing concerns that echo a disheartening struggle: "I have tried every medication for depression, and nothing ...