Novel disorder causing severe respiratory dysfunction linked to loss-of-function gene variant

A new report in the American Journal of Human Genetics describes a novel disorder caused by biallelic loss-of-function ...
Medical Xpress

Rare loss-of-function variants reveal threshold and multifactorial inheritance of dextrocardia

Dextrocardia, a condition where the heart is located on the right side of the thoracic cavity, occurs in approximately 0.83 of 10,000 pregnancies and is often associated with complex congenital heart ...
News Medical

Novel machine learning tool predicts gain- and loss-of-function variants across the genome

In a novel study, researchers from the Icahn School of Medicine at Mount Sinai introduced LoGoFunc, an advanced computational tool that predicts pathogenic gain- and loss-of-function variants across ...
News Medical

Scientists find links between bipolar disorder and rare loss-of-function variants in two genes

Scientists at deCODE genetics, a subsidiary of Amgen, reveal today in Nature Genetics associations between bipolar disorder and rare loss-of-function variants in two genes. Bipolar disorder is ...