Nature

Predicting mild familial exudative vitreoretinopathy with autosomal dominant inheritance using deep learning

Familial exudative vitreoretinopathy (FEVR) is an inherited retinal disorder characterized by deficient vascular development in the peripheral retina 1. FEVR exhibits heterogeneous inheritance ...
Medical News Today

Retinitis pigmentosa inheritance patterns

Retinitis pigmentosa (RP) is an eye condition that can be genetic. In this way, people usually need to inherit two copies of a genetic variation that causes RP, one coming from each parent. RP may ...
Healthline

What Is Autosomal Recessive Cystic Fibrosis, and Who Does It Affect?

Cystic fibrosis (CF) is an autosomal recessive condition. This means that a person will have CF only if they receive the affected gene from both parents at conception. Share on Pinterest Dalibor ...
Nature

Deep learning detection of retinitis pigmentosa inheritance forms through synthetic data expansion of a rare disease dataset

Classification of inheritance patterns is important for clinical characterization and genetic counseling in inherited retinal diseases (IRDs). In practice, inheritance assessment integrates pedigree ...
Medical News Today

Von Willebrand disease inheritance patterns

Von Willebrand disease (VWD) is a bleeding disorder in which the blood does not clot as it should. Usually, people have VWD due to their genes, which may come from a male or female parent. Blood ...