Chen Guo1, Ruolin Ding2, Zhihe Zhao2

  • 1Key Laboratory of Green Chemistry and Technology of Ministry of Education, College of Chemistry, Sichuan University, Chengdu, Sichuan, 610064, China.

概括

突变丰富方法的进步改善了与疾病相关的罕见遗传变异的检测. 这些技术提高了识别低频突变的灵敏度,这对于基因组学和诊断至关重要,特别是在液体活检中.