Homo sapiens Targeted Locus (Loci). Homo sapiens

This study used exome sequencing and targeted resequencing to identify single nucleotide variants and deletions in six patients with acute lymphoblastic leukemia. Single cells were then isolated, followed by whole genome amplification and targeted resequencing of all confirmed mutations in the bulk samples.

本研究采用外显子组测序（exome sequencing）与靶向重测序（targeted resequencing），对6例急性淋巴细胞白血病（acute lymphoblastic leukemia）患者样本中的单核苷酸变异（single nucleotide variants）及缺失突变进行识别。随后分离单个细胞，完成全基因组扩增（whole genome amplification），并对批量样本中已确认的全部突变实施靶向重测序。