GRIDSS2：利用单断点变体和结构变异相位进行体细胞结构变异的全面特征描述。

Bioinformatics Division, Walter and Eliza Hall Institute of Medical Research, Parkville, Australia.

Department of Medical Biology, University of Melbourne, Melbourne, Australia.

Genome Biol. 2021 Jul 12;22(1):202. doi: 10.1186/s13059-021-02423-x.

GRIDSS2 is the first structural variant caller to explicitly report single breakends-breakpoints in which only one side can be unambiguously determined. By treating single breakends as a fundamental genomic rearrangement signal on par with breakpoints, GRIDSS2 can explain 47% of somatic centromere copy number changes using single breakends to non-centromere sequence. On a cohort of 3782 deeply sequenced metastatic cancers, GRIDSS2 achieves an unprecedented 3.1% false negative rate and 3.3% false discovery rate and identifies a novel 32-100 bp duplication signature. GRIDSS2 simplifies complex rearrangement interpretation through phasing of structural variants with 16% of somatic calls phasable using paired-end sequencing.

GRIDSS2 是第一个明确报告只有一侧可以明确确定的单断点-断点结构变异体调用者。通过将单断点视为与断点相当的基本基因组重排信号，GRIDSS2 可以使用单断点到非着丝粒序列来解释 47%的体细胞着丝粒拷贝数变化。在 3782 个深度测序的转移性癌症队列中，GRIDSS2 实现了前所未有的 3.1%的假阴性率和 3.3%的假发现率，并确定了一个新的 32-100bp 重复特征。GRIDSS2 通过使用配对末端测序对结构变异进行相位来简化复杂的重排解释，其中 16%的体细胞调用可以相位化。