Personalized genome assembly for accurate cancer somatic mutation discovery using tumor-normal paired reference samples.
Chunlin XiaoZhong ChenWanqiu ChenCory PadillaMichael ColganWenjun WuLi-Tai FangTiantian LiuYibin YangValerie SchneiderCharles WangWenming XiaoPublished in: Genome biology (2022)
Our findings demonstrate that use of a personalized genome with individual-specific haplotypes is essential for accurate detection of the full spectrum of somatic mutations in the paired tumor-normal samples. The unique resource and methodology established in this study will be beneficial to the development of precision oncology medicine not only for breast cancer, but also for other cancers.