??????????2??????????????????8??????? (????????? ????????????????????)8?????????,??????:?????????????????????,?????T2T?????????????????????--????????,?“????????????”??????????

?????????????????,???,????????,?????,?????,??????,??????????????????????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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