sequencing

sanger
NGS Next Generations Sequencing https://zhuanlan.zhihu.com/p/335770966
array
pacbio long read

WGS
whole-exome sequence(WES)

GATK-SV SVtolls Absinthe

SNV indel SV

human genome：
tada：association between disease and sv（https://genomebiology.biomedcentral.com/articles/10.1186/s13059-022-02631-z）
T2T-CHM13
LOF（lost of function）预测模型？
graphic reference call sv 更准确？(https://genomebiology.biomedcentral.com/articles/10.1186/s13059-022-02631-z)