BRAF V600E mutations in benign and malignant peripheral nerve sheath tumors. Background: Gain or loss of chromosome arms are frequently detected in gastrointestinal stromal tumors (GISTs), and have ...

Genomic imprinting has been implicated in the aetiology of an overgrowth cancer-prone syndrome, the Wiedemann-Beckwith syndrome (WBS). We have demonstrated uniparental disomy (UPD) for paternal ...

To date, most cases of uniparental disomy—having two copies of a chromosome from either mom or dad, rather than one from each—have been identified in the context of disease, but a new study from ...

A supposedly rare genetic quirk might be more common than we think, according to new research out Thursday. The study, based largely on 23andMe data, suggests that one in every 2,000 people are born ...