Detection of Novel BEST1 Variations in Autosomal Recessive Bestrophinopathy Using Third-generation Sequencing

ConclusionOur findings represent the first use of third-generation sequencing (TGS) to identify novelBEST1 mutations in patients with ARB, indicating that TGS can be a more accurate and efficient tool for identifying mutations in specific genes. The novel variants identified further broaden the mutation spectrum ofBEST1 in the Chinese population.

http://link.springer.com/10.1007/s11596-024-2865-3

Source: Journal of Huazhong University of Science and Technology -- Medical Sciences -- - April 15, 2024 Category: Research Source Type: research