Genetic & Genomic MedicineJournal of Molecular DiagnosticsPeer-reviewed
Overcoming the pitfalls of NGS-based molecular diagnosis of Shwachman-Diamond syndrome
Xiaomin Peng, Xinran Dong, Yaqiong Wang…·Yulan Lu
The paper introduces HapICE, a method to improve variant detection in SBDS using NGS, achieving higher diagnostic accuracy than conventional methods.
4 citations