Article
Large scale genotype- and phenotype-driven machine learning in Von Hippel-Lindau disease.
Human mutation - 1 Sept 2022
Chiorean Andreea, Farncombe Kirsten M, Delong Sean, Andric Veronica, Ansar Safa, Chan Clarissa, Clark Kaitlin, Danos Arpad M, Gao Yizhuo, Giles Rachel H, Goldenberg Anna, Jani Payal, Krysiak Kilannin, Kujan Lynzey, Macpherson Samantha, Maher Eamonn R, McCoy Liam G, Salama Yasser, Saliba Jason, Sheta Lana, Griffith Malachi, Griffith Obi L, Erdman Lauren, Ramani Arun, Kim Raymond H
Abstract excerpt
Von Hippel-Lindau (VHL) disease is a hereditary cancer syndrome where individuals are predisposed to tumor development in the brain, adrenal gland, kidney, and other organs. It is caused by pathogenic variants in the VHL tumor suppressor gene. Standardized disease information has been difficult to collect due to the rarity and diversity of VHL patients. Over 4100 unique articles published until October 2019 were...
Topics
- Adrenal Gland Neoplasms
- Genotype
- Humans
- Machine Learning
- Phenotype
- Von Hippel-Lindau Tumor Suppressor Protein
- von Hippel-Lindau Disease