Characterizing sensitivity and coverage of clinical WGS as a diagnostic test for genetic disorders

• Автори: Yan Sun (Автор), Fengxia Liu (Автор), Chunna Fan (Автор), Yaoshen Wang (Автор), Lijie Song (Автор), Zhonghai Fang (Автор), Rui Han (Автор), Zhonghua Wang (Автор), Xiaodan Wang (Автор), Ziying Yang (Автор), Zhenpeng Xu (Автор), Jiguang Peng (Автор), Chaonan Shi (Автор), Hongyun Zhang (Автор), Wei Dong (Автор), Hui Huang (Автор), Yun Li (Автор), Yanqun Le (Автор), Jun Sun (Автор), Zhiyu Peng (Автор)
• Формат: Книга
• Опубліковано: BMC, 2021-04-01T00:00:00Z.
• Предмети: article
• Онлайн доступ: Connect to this object online.

Abstract Background Due to its reduced cost and incomparable advantages, WGS is likely to lead to changes in clinical diagnosis of rare and undiagnosed diseases. However, the sensitivity and breadth of coverage of clinical WGS as a diagnostic test for genetic disorders has not been fully evaluated....