Researchers use long-read genome sequencing to discover 33% more structural variants and 38% more tandem repeats linked to autism spectrum disorder.

Background Monogenic disorders are a major cause of fetal structural anomalies. Most genetic diagnoses involve de novo, biallelic or X linked variants; however, inherited variants in autosomal ...

By utilizing long-read sequencing, an emerging technique that reads large sections of the genome at once, scientists at UC San Diego have revealed new genetic variants associated with autism spectrum ...

Gene dysregulation is a hallmark of disease, driving pathogenic phenotypes and poor patient outcomes. RNA binding proteins are often important human gene effectors, controlling RNA synthesis, ...

The researchers deeply sequenced five head and neck squamous carcinomas, four lung squamous carcinomas, and one colorectal adenoma.

Papaya (Carica papaya L.) is a globally important tropical fruit valued for its nutrition and medicinal properties, yet its genetic diversity has ...