????????????????T2T??????

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?????,?????,?????,?????????,???,??,???????????ONT?Hi-C??????,?????T2T????????????????????,???????“?????????????”,???????????

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???????????:??????????????????????????????????T2T???,???????????,?????????????194,234?????(SV),?????????SV????????????????,???????

??????:???T2T?????,?????89??????,?TPT1??????????????????????????????SV????????????????RNA??,??17??????????????????????????????????????????????????????

????????:?????SV??????????????????,??????(GS)??????????????????????????????????,6???5??????????70%,?????????????88%????????????,80%?????????????????“SNP+SV”?????????????,?????2%-4%????????????????????????,????????????????????CL3????????SV???????????????????,???????

???,??????:??????;SV???????????????????????,???,?????????????????;???,????,???(??) ???:????????