cuteHap:在分阶段长读测序数据中检测哈普类型感知结构变异

Shuqi Cao1,2, Yadong Liu1,2,3, Miao Cui1,2

  • 1Center for Bioinformatics, Faculty of Computing, Harbin Institute of Technology, Harbin, Heilongjiang, China.

概括

CuteHap 改进了结构变体 (SV) 检测,使用阶段长读序列数据. 这种对哈普洛型有意识的方法提高了准确性,并识别了各种低频 SV,推动了基因组研究.

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