Fig. 1: Identification and categorization of causal disease genes.
From: Simulation of undiagnosed patients with novel genetic conditions
a Genomic variation uncovered in an affected patient through DNA sequencing is investigated using variant-level and gene-level evidence in order to identify the gene variant that is most likely responsible for causing the patient’s symptoms. Here, we depict a subset of relevant information that a care team may use to make this assessment. b The causal gene responsible for a patient’s disorder can be categorized based on the extent of medical knowledge that exists about the gene and its associated disorder. Intuitively, diagnosing patients where less is known about their causal gene and disease (bottom category) is a more challenging task than diagnosing patients where more is known about causal gene and disease (top category). The protein structure pictured is PDB: ID3B. Icons are from Microsoft PowerPoint.
