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

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