Evaluating the clinical utility of a long-read sequencing-based approach in genetic testing of fragile-X syndrome

CONCLUSIONS: CAFXS represents a more comprehensive and accurate approach for FXS genetic testing that potentially enables more informed genetic counseling compared to PCR-based methods.PMID:38375623 | DOI:10.1016/j.cca.2023.117614

Source: International Journal of Clinical Chemistry - February 20, 2024 Category: Chemistry Authors: Fei Hou Aiping Mao Shan Shan Yan Li Wanli Meng Jiahan Zhan Wenying Nie Hua Jin Source Type: research