한국   대만   중국   일본 
?????? ???? ???? ? ???????? ???? ?????

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???? ????????, ???????????? ???????
(????? ???? ?????? ????? ?????? )
????? ?? ???? ???? ????

?????? ???? ???? (?? ?????? ????? ??????) ??? ???? ???? ???????? ????? ????? ?? ??? ????? ??????? ???????? ?? ?- DNA ?? ? ??? ??? ????? ????????? ???? [1] [2] , ?????? ?????? ?? ?? ????? ? ???? ???? , ?????? ??????? ???????????? [3] . ??? ????? ???????? ??????? ????? ?????????. ????? ????? ???? 1984 ?? ??? ????? ????? ????? , ????? ?- 1990 ?????? ??????? ???????? [3] . ??? ????? ??, ???? ????? ??? ?? 15 ??? ?????? ?? ????? ??????? ????. ???? ????? ????? ????? ?????? ???? ?-14 ?????? 2003, ??????? ??? ???? ?????? (???? ??? ?? 2.7 ??????? ???? ?-1990). ????? ????? ?? ????? ??? ???? ??? ?? DNA (??????? ?????? ?? A, T, C, G), ????? ?????? ????? ???? [4] . ????? ???? ??? ?? ????, ??? ?? ??????, ????? ?? ???? 2021 [5] . ????? ????? ?? ?? ????? ?-31 ???? 2022 [6] [7] .

?? ????? ???? ???? T2T-CHM13 ??? ????? ?? ????? ?????? GRCh38.

???? ?????? ?????? ????? ??? ????? ????? ?????, ??????? ??????? ???????? ??????? (NIH) ????? ??????? ???? ???? ????? ?????, ?????? ???????????? ?????? ???? ?????? ?????, ??????? , ??? , ???? , ?????? ? ??? [3] . ????? ???? ????? ????? ???????? ????? ????? ?????, ???? ???? ???? . ???? ?????, ??? ??????, ?????? ???? Celera Genomics ???? ???? 1998 , ??????? ?? ?? ?-2003 ???????? ???????.

????? ??????? ?? ???? ???? ???? ??? ????? ?? ?? ? ???????????? ??????? ? ???? ????? ???????? , ????? ????? ?????? ??????? ????????????. ????? ?? ?? ??? ??? ??????; ?????, ???? ???? ????? ?????, ?????? ?????? ???? ???? ??? ????? ????. ???, ????? ????? ??? ????? ?? ??? ????? ????? ????? ??? ??? ??????.

???????? [ ????? ??? ???? | ????? ]

??? ????? ?????? ? ????? DNA , ?????? ???? ???? ?? ???? ????. ???? 1979 ????? ???? ???? ?????? ? ?????????? ??????? ?-NIH, ?? ??? ????? ?? ????? ??????? ????. ??????? ??????? ????? ?? ??? ?????? ????? ???? ???? 1984 [3] . ???? ??, ?-NIH ????? ?? ??? ??????? ?????? ?????, ?? ??????? ?????? ????? ??????, ???? ????? ?? ????? ?????? , ????? ???? ???? ??? Science ?-1986 ?? ???? ???? ?? ?? ????? ???? [8] . ??? ????????, ?'???? ?????? ???? ????? ?? ?????? ?????? ??????, ????? ?????? ?????? ??????. ????? ??? ??????? ??????? ?????????, ?????? ?????? ???? ???????? ?????? ????? ?? ???? ????? [9] . ?????? ?????? ?? ? ?????? ??? ??????'? , ????? ?? ???? ?? ??????? ???????? ???????????. ??????'? ??? ??? ? ????? ??????? ?????? ???? ?? ????? ??????? , ????? 1988 ????? ???? ??????. ??????? ?? ???? ?????? ?????, ??????? ????? ????? ?-NIH. ??? ?????? ?? ????? ????? ?? ?????, ???? ????? ?????? ???? ????? ?????? .

???? ????? ????? ???? 1990 ??? ??? ?????? ?????? ????????, ????? ??????? ?? ????? ????? ??-NIH ??? ?? ????? ?????? ?? ?????, ???? ????? ????? ?? 3 ??????? ????, ?????? ???? ???? ?????? 15 ???. ????? ????? ????? ???????? ???? ?? ?????? ??? ???? ????? ????????? ????? ? ??????? (???? ?? ????? ???? ), ????? ???? ?? ?????? ????? ?????? ?????? ????? ???? ?? ?-2.7 ??????? ???? (??????? ?????????, ???? ?? ?-5 ??????? ???? ?-2018).

????? ??????? ???? ????? BED .

????? ????? [ ????? ??? ???? | ????? ]

???? 1988 ?????? ???? ?? ??????? ??????? ?????? (????? ?????) , ?????? ????? ???????? ??????? [10] . ??? ???? ?? ??????, ?????? ???? ?? ???? ??????? ????, ??????? ?? ??? ????? ??????? ?? ????? ????? ??-NIH. ?? ?????? ????? ???? ????? ?????? ???????, ???? ?? ??, ????? ????? ????? ????? ?????? ??????? ?? ??, ???? ?????? ????? ?? ???? ????? ??????? [11] .

?????? ????? ??????? (1990?1995) [ ????? ??? ???? | ????? ]

?????? ??????? ???? ????? ???????? [12] :

  1. ????? ?????? ???? ????:
  2. ???????? ???? :
    • ????? ??? ????? ?? ???? ????? ?? ???? ????? ??????. ?????? ??? ???????? ?? ???????? ??? ?? ?????.
    • ????? ?? 20 ??? ?????? ?????? ????????? ????, ??????? ????? ??? ??????, ???? ?????? ?????? ??????? ?? ?????? ?????.
  3. ??????? - ????? ???? ???????:
    • ????? ?????? ?????? ???? ????? ????? ?????? ?????.
    • ????? ?????? ??????? ???? ??? ????? ?????? ???????.
    • ????? ?????????? ????? ???????? ?????? ?????? ?????.
  4. ????? , ?????? ??????? ???????:
    • ????? ??????? ??? ????? ?? ?????? ????? ??????? ??"?. ????? ?????? ?? ??????? ???????? ?????? ??????? ??? ??????? ???.
  5. ?????:
    • ????? ?????? ??????? ????? ???? ????? ????? ???? ?????, ????? ?? 600 ?????? ????? ??????.
    • ????? ????? ???? ??? (??? 1991) ??????? ??????.
  6. ????? ?????:
    • ????? ???? ?????????, ??????? ??????? ????, ??? ?? ????? ??????????? ???????.
  7. ????? ???????????:
    • ????? ???? ?? ???????.
    • ????? ???, ????? ???? ??????????? ??????? ?????? ???????.

?????? ????? ?????? (1993?1998) [ ????? ??? ???? | ????? ]

???? ???? ????, ???? 1993, ?????? ?????? ????? ??????, ?????? ???? ?????????? ??????????? (?????? ???? ??? ??????? ????? ??????), ???????? ????? ??????? ?? ?????. ??? ????? ???? ????? ??????? ??-NIH ?? ?????? ????? ?????, ?????? ?????? ???? ???? ????? 1993?1998 [2] . ??? ?????????? ??????????? ???????? ??????? ?? ???????? ???? ????? (?) ????? ???? ????? ?????? ??????, ??????? ?????? ?? ??? PCR , (?) ????? ?????? ? ????? ???????? ?? ????? DNA ?????? ????? ???????? ??? ???? ???? ?????? ??? ???? ?????????, (?) ?????? STS ?????? ???? ?????? ??????, (?) ????? ?????????? ????????? ?? ????? ??????.

????? ?????? ????? ?????? [13] :

  1. ????? ?????? ???? ????:
    • ????? ???? - ????? ?????? ???????? ?? 2?5 ????????? (cM) ?? ???? 1995. ????? ?????????? ?????? ????. ????? ????? ?????? ?????? ???? ??????. ????? ????? ????? ?????
    • ????? ??????? - ??? ??????? ????? ???????.
    • ????? - ????? ????? ?????? ?????? ????? ?? ??? ??? ?????? ???? ????? ??. ????? ????? ?????? ??? ???? (high throughput), ???? ?? ?????? ?????? ?? ?? ?????? ?????? ????? ?-DNA ??? ?????? ?????. ????? ??????? ??? ??????? ????? ?? 50 ??? ?????? ????, ?? ??????? ?????? ????? ?????? ??? ??? 80 ??? ??????.
  2. ????? ????:
    • ????? ????? ?????? ?????? ???? ???????? ?? ??? ???? ???????? ?? ???? ??????.
  3. ????? ?????:
    • ????? ?????? ?????? ?????????? ??????? ?????? ??????????? ??????? ?????? DNA.
  4. ???????? ???? :
    • ????? ??? STS ?? ???? ????? ????????? ?? 300 ???? ??????.
    • ????? ????? ??????? ?? ?? ???? ? ??? ?????? ?? ???? 1998.
    • ????? ????? ?? ????? ? ??????? ????? , ?? ????? 1998 ???? ??? ????? ???? ????? ?????.
    • ????? ????? DNA ?????? ???????? ????? ???? ???? ????? ???????.
  5. ???????
    • ????? ?????, ????? ?????? ?????? ?????? ???? ????? ????? ????? ?????, ???? ????? ???? ?????? ?????? ???? ??? ?????? ?????.
    • ?????, ???? ????? ????? ?????? ??????.
    • ???? ???? ???????? ?????? ?????.
  6. ????? , ?????? ??????? ???????:
    • ???? ????? ?????? ?? ??????? ???????? ?????? ??????? ??? ??????? ???.
    • ????? ????? ??????? ???? ?????? ?????? ?????? ???????????.
    • ????? ???? ????? ?? ?????? ????? ?????.
    • ????? ?????? ?? ?????? ??????? ????????, ????? ?????? ??????? ???????-???????? ????????????.
  7. ?????:
    • ???? ????? ?????? ??????? ??????? ?????.
  8. ????? ???????????:
    • ????? ?????? ????? ??????????? ???? ????? ????? ????? ???????? ?????.
  9. ??????:
    • ????? ????? ?? ??? ?????? ????? ???? ???? ?????? ?????.
    • ????? ?? ????? ???????? ??? 6 ?????? ???? ??????, ??????? ???? ????? ???????.

?????? ????? ??????? (1998?2003) [ ????? ??? ???? | ????? ]

????? ?????? ????? ??????? [14] :

  1. ????? ?????? ???? ????:
    • ????? ?????? ?? ???? ??? 2003.
    • ???? ???? ??????? ?? ???? 2001.
    • ???? ?????? ?? 90% ?????? ????? ????? ?? ???? 2001.
    • ????? ?????? ???? ????? ??????.
  2. ????? ?????:
    • ???? ????? ?????? ?????? ????? ??????.
    • ????? ????? ?? ????? ??????? ??????? ?????? ?????? ??????? ?????? ??????.
    • ????? ????? ?????? ?????? ????? ????? ????? ???? ????? ??????.
  3. ?????? ?????? ????? ????:
    • ????? ????? ?????? ???? ???? ???? ?? SNP ???????? ?????? ??????.
    • ????? ??????? ?????? ?- CDS ?? ??? ????? ???????.
    • ????? ??? SNP ?? ????? 100,000 ????? ??????.
    • ????? ????? ????? ??? ????? ?? ?????? ??????.
    • ????? ?????? ???????? ?? ??????? DNA ?????? ????.
  4. ????? ??????? ????????:
  5. ??????? ???????? :
    • ????? ????? ?? ????? ???? 1998.
    • ????? ????? ??????? ????? ???? 2002.
    • ????? ??? ???????? ???? ????? ?? ?????, ??????? ?????? ???? ????? ???? ?? cDNA ?????? ???? ?? ???? 2008.
    • ????? ????????? ???? ?????? ????? ?????? ??? ?????? ???????.
  6. ????? , ?????? ??????? ???????:
    • ????? ?????? ??????? ?????? ????? ???? ???? ???? ?????? ??????.
    • ????? ?????? ???? ?????? ????? ????? ????? ???? ??????.
    • ????? ?????? ???? ?????? ????? ???? ??????? ????? ???????.
    • ????? ???? ??? ???? ??? ???? ????? ?????????? ?? ????? ?????? ??? ??????????, ????????? ??????.
    • ????? ???? ?????? ??????, ?????? ??????????????? ??????? ?? ??????, ????? ???????? ?? ???? ????; ?????? ???????? ??????; ?????? ???????.
  7. ????????????? ? ???????? ??????? :
    • ????? ????? ??????? ?????? ?????.
    • ????? ???? ????? ???? ?????? ???? ?? ???????? DNA .
    • ????? ?????? ???? ?????? ???? ??????? ???????????? ???? ????.
    • ????? ?????? ???? ?????? ?????? ????? ???? ??????.
    • ????? ???????? ?????? ?????? ?????? ?????? ?????? ?????? ??????? ?????? ?????? ????? ????.
  8. ????? ???? ???:
    • ???? ?? ?????? ?? ?????? ???????? ????? ?????.
    • ????? ???? ?????? ?????? ??????? ???? ?????? ??????? ???????.
    • ????? ???? ??????? ???? ??? ?? ????? ???????? ??? ?????? ??????, ??????? ????? ?????.

????? ????? ?????? [15] [ ????? ??? ???? | ????? ]

???? ???? ???? ????? ?????
????? ???? ???????? ?? 2?5 cM (?? ???? - 1500 ????? ??????) ???????? ?? 1 cM (3000 ????? ??????) ?????? 1994
????? ??????? 30,000 STS 52,000 STS ??????? 1998
????? DNA 95% ???????? ????? ????? ???? ????? ?? 99.99% 99% ???????? ????? ????? ???? ????? ?? 99.99% ????? 2003
????? ????? ????? ????? 500 ??? ?????? ????, ????? ?? ???? ?-$0.25 ????? ???? ???? ?-1400 ??? ?????? ????, ????? ?????? ?-$0.09 ????? ?????? 2002
????? ???? ???? ????? 100,000 SNP ????? 3.7 ?????? SNP ?????? 2003
????? ???? ????? ??? ?-cDNA ?? ???? 15,000 ???? cDNA ????? ??? ??? 2003
????????? ???? ????? ????? ????? ?? ?? ????, ??? ??????, ?? ????? ???????? ????? ???? ????? ?????? ?? ??????????? ??"?, ?????? ?????? ????? ??????? ??????, ???? ????? ???????, ??????? ?????? ????? ????? ????? 2003
????? ?????????? ????? ????? ????? ????? ?????? ???? ???? ?? ?????????????????? 1994
DNA ????????? 1996
??????? ???? ????? ???????? (???) 1999
????? ???? two-hybrid ?????? ??? ??? ??????? 2002

????? ?????? ????? [ ????? ??? ???? | ????? ]

????? ?????? ??????? ???? 2000, ?????? ?????? ?????? ?? ???? ????? ????? ??? ??????? ? ??? ????? ??????? ???? ????? ?-26 ????? [16] . ??????? ??????? ?????? ??????? 2001. ?????? ????? ?? DNA ???????? ????, ?????? ?-92.1% ????? ????. ??? ?-DNA ? ?????????? , ???? ????? ? ????????? ????????? ??? ????? ?????. ?????? ??? ???? ???? ??????, ?????? ????? ?????? ?????? ?? ????? ????? ??????? ?????, ??????? ??? ????????? ??????? ????????. ?????? ??????? ????? ????? ?-90% ??????, ?? ?? ????? ??? ??? ??? ?????? ?-150,000 ???????, ??? 28% ?????? ??? ????? ???? ?????? ????? [3] . ????? ????? ?????? ?-2003 ??? ????? ?? ???? ?????, ?? ????? ???? ??? ????? ???????. ?????? ?? ??? ???? ?-400 ???????, ?-99% ?????? ??? ??? ????? ??? ??? 10,000 ?????? [3] . ????? ????? ????? ?? ???? ??? ?? ????? ?? ????? ?? 99% ?? ?-DNA ????????? ????? ?? 99.99%, ????? ????? ?-92% ??? ?????? ????? ??? [17] .

???? 2006 ?????? ??? ????????? ??????, ???????? 1 , ????????? ????? ????? ???? [18] . ????? ??? ????? ????? ??????? ?? ?????. ???? 2009 ?????? ????? ????? ?????? ??? 300 ???????, ????? 2015 ????? ????? 160 ???????. ???? 2020 ????? ?? 79 ??????? ????? ??????, ??????? 5% ??????. ?????? ?????? ???? ??? ???? ????? ?????????? ????? ????, ??????? ????? ?????? ??????, ???????? ???? ???????? X ?????? ??????. ??? ??????????? ?? ????? ??? ????? ?? ???? 2021 ????? ?????? ?? ?? ???????????, ???? ???????? Y .
???? 2022 ????? ????? ????? ????? ?????? [19] .

?????? ?????? [ ????? ??? ???? | ????? ]

?????? ?????? ?????? ???? ?????? ???? ? ????? . ?- NCBI ??????? ??????? ??????? ????? ?????? ?? ?? ????? ????? ?????.

????? ????? ?? ???????? 11 ???? ??? NCBI. ?????? ?????? ???? ?? ??????

???? ?????? [ ????? ??? ???? | ????? ]

????? ?????? ???? ???? ?????? ?????, ??? ?????? ?????? ?? ?????????? ????????? ????? ???? ?- Ensembl ????????? ???? ??????? ??????? ????? ????????, ??? ?? ????? ???? ?????? ????? ??????? ?????.

????? ?????? [ ????? ??? ???? | ????? ]

????? [ ????? ??? ???? | ????? ]

???? ???? ???? ?-3.1 ??????? ????? ??????. ??? ????? ?????, ???? ????? ??????? ????? ?? ?-150,000 ????? ??????. ?????? ???? ??????? ??? ???? ?????: ??? ????? ???? BAC , ??? ?????????? ????????? (????? ?????? ????? ????? ?????). ?-BAC ????? ???? ??????? , ?? ???? ????? ?? ??? ?????? ?????. ???? ??? ?-DNA ????, ????? ????? ????? ?????? . ????? ?????? ????? ?? ??? ??? ?? ??? ???? ???? ????? DNA ??????, ????? ?? 150,000 ??????? ????? ????? ???? ?????, ???? ?????? ?????? ???? ????. ????? ?? ?????? ????? ?????? .

??????? [ ????? ??? ???? | ????? ]

? ?????????????? , ?????? ?? ????? ????? ???? ????? ???? ???????? DNA . ??????? ????? ?????? ????, ?? ?? ????? ????. ????? ???? ?????? ?????? ?? ????, ???? ????? ???? ???????? ?????????. ???? 2008 ????? ???? ?????? ??? ?- mRNA ???, RNA-seq , ?????? ?? ?? ????? ????????. ?? ?????? ???? ??, ????????? ?????? ?? ???????? ?????? ?????? ????? ????? ???????. ???? ????????? ?????? ?? ????? ???? ????? RNA-seq ?????? ??? ? ??????? ??? ???? ????? ????????. ??????? ??? ???? ???? ?-90% ?????? ???? ?????? ????? ????? , ?? ??????? ????? ??????? ??? ??????? (?? ????) ?????.

????? ?????? ?? ????? ?? ????? ?? ??? ????. ??? ????? ?? ???? ?????? ?????????, ???? ????? ???????. ????? ?? ????? ?? ???? ?????? ?? ??????? ???????.

???? ???? ????? ????? ??????? ? ???? ???? , ?????? . ????? ?? ????? ??? ??? ????? ????? ?? ???? ??????, ?????? ?-3.4 ??????? ???????????? , ????? ??? ??? ???? ????? ???? ???? ?????? ???? ???? ??????.

?????? [ ????? ??? ???? | ????? ]

?????? ??????? ?????? ?????? ?????:

  • ???? ?-22,300 ???? ???? ???????? ??????, ???? ????? ??????? ?????.
  • ????? ??? ??????? ????????, ???? ???? ??? ?????.
  • ??? ?? ???? ???? ????? ??????, ?? ?-7% ??????? ???????? ??????? ??? ???????? ? ????????? .

????? ????? ?????? ???? ???? [ ????? ??? ???? | ????? ]

????? ???? ??? ???? ?-NIH ????? ?-90 ???????? ???? ????? ???. ?????? ?????? ???? ???? ??????? ???????, ??? ???? ??????, ????? ???? 1998 ???? ??? Celera Genomics , ????? ???? ????? ???? ????? ???????, ???????? ?????? (300 ?????? ????). ????? ????? ????? ?????? ???? ???? ???? ?????? ??????? ?????? ????? ???? ?????? ??????? ??????? ??????? ?? ??? ????? ???????.

???? ?????? ????? ?????? ????? ???? ??? ????? ?????? ?????? . ???? ?? ?????? ?? ????? ??????? DNA ??????, ????? ?? ?????? ??????? ????? ???? ?? ???. ???? ?? ??? ????? ?????? ?????? ?? ??????? ????? ????? ?? ???? ?????? ????? ??????, ?????? ?? ???? ??? ????? ??????? ????.

???? ?????? ?????? ?? ?? ?????? ????? ???? ?? ?? 200?300 ????, ?? ????? ???? ????? ???? ?? ????? ????? ?? 100?300 "????? ?????? ???????? ??????". ????? ????? ????? ???? ?????? ???? ??????? ?? 6,500 ???? (?? ???? ????). ????? ?????? ????? ?? ?????? ????? ????? ????? ?????? ???? 1996, ??????? ????? ???? ??? ???? (????? ??????? ???? ?? ??????? ?? ???? ????), ?? ?????? ????? ??????? ?? ?? ?????? ????? ?????.

????? ??????? ????? ????? ?? ????? ????? ??? ?????? ?? ???? ????. ???? 2000, ???? ????? ????? ??? ??????? ???? ????? ??????? ???? ????? ???? ?????? ??????? ????? ??????? ???? ???? ?????? ??????? [20] . ?????? ???? ?????? ?????? ?? ????, ?? ???? ????? ? ????"? ?? ???? ? ???????????? . ????? ???????????? ????? ???? ??? ?? ?-50 ??????? ???? ???? 48 ???? ???????. ???? ???? ????? ?? ????? ?????? ?? ????? ???????, ??-7 ????? 2000 ?????? ?????? ???????? ??????? ?? ??? ????? ??????????????? ?? ????? ?- UCSC , ??? ?????. ???? 24 ???? ???? ???? ????? ???? ???? ?? 500 ?'??? ????.

??????? 2001 ???? ????? ??????? ?- Nature ????? ?? ?????? ????????? ???? ?? ?????? ?????? ????? ????. ??????, ???? ???? ????? ???? ????? ?????? ??? ????? ????? ???? ??? Science [21] . ? ????? ???????? ?????? ???? ??????? ????? ??? ????? ?????.

?????? ???????? [ ????? ??? ???? | ????? ]

????? ????? ?? ???? ???? ??? ???????? ?????? ??????? ????, ???? ????? ????????? ? ???????? ?? ???? . ??????? ??????? ??? ????? ????: ???? ?????, ????? ???? ?? ?????? ?????? ????? ?????, ????? ??????? ?????????? ?????? ???????, ????? ????? ?????? ????? ???? ?? ???????, ????? ????? , ??? ??????? , ?????? , ????? ???? ???? , ????? ????????, ????? ??????? , ?????????????, ???????????? ? ???????? ( ?????? ??????????? ).

????? ????? ????? ????? ?? ???? ??? ??? ?-DNA ???????? ????? ?????? ????, ???? ???? ? ????? . ?? ????? ????? ????? ???????, ????? ??????? ( Myraid Genteics , ????) ???? ????? ?????? ?????? ??? ????? ????? ?????? ?????, ??? ???? ??? , ????? ?? , ?????? ???????? , ????? ??? ????.

??? ?-DNA ???? ??? ? ????? , ???? ?- NCBI ??????? ????????? ??????? ???????. ???? ????? ????? ????, ????? ??????? ?? ???? ????? ????? ???? ?????? ???? ?????? ????? ?????. ?? ???????? ??? ?????, ???? ?? ?? ???? ??? ? ????? ???? ????, ??? ?? ????? ????? ???? ??? ???? ?????, ????? ???? ?????? ???????, ????? ????? ??? ????? ?????? ???, ????? ?????????, ????? ???? ???? ?? ??????? ?????, ????? ??? ??? ????? ????, ??????? ???? ??? ?????? ?????? ?? ?????????? ????????? ????? ???? .

????? ?? ??? ??? ??????? ??????, ???? ?????? . ??????, ???? ????? ?????? ??? ???? ???? ? ?? ????? ????? ????? ?? ????? ? ???? ????? ?????. ????? ????? ????? ???? ???? ???? ???? ??????, ???? ???? ???? ?? ?????? ???????? ?????? ?? ?????.

???? ??????? [ ????? ??? ???? | ????? ]

??? ??????? ???? ????? ?? ?-20 ??????, ????? ????? ?????? ??? ????? ?????? ??????. ????? ???????, ????? ???? ????? ?? ????? ????? . ????? ??-DNA ?????? ???? ???????, ????? RP11, ??? ? ????? , ??? ???? , ??? ?????? ????? ?????? ????? ?????? ??????, ???? ??? ?-DNA ????? ?????? (70%<) ????? ?-RP11. ??? ??????? ?????? ????? ?? ??? ??? ???? ????, ????? ?-DNA ??? ??? ?? ????? .

??? ?????? ????? ??????? ????? ????? ?? ?????? ?????? ?????????? ???? ?? ??? ???? ????? ??????? ?????? ?????? ??????. ??? ????? SNP ? ????????? , ????? 270 ?????? ? ???? ?????? , ????? , ??? ??? , ?????? ????????? ????? ???????.

????? ????? ??? ???? ????? ??????? ????? ????? ?????? ?????? ?????. ????? ????? ?????? ?? ?????, ????? ???? , ???? ???? ??? ?????? ???? ??????? ????? ?? ???? ???? ????? ??????. ????? ?? ????? ???? ????? ?????? ???? 2007 [22] , ???? ?????? ???? ??? ????? ????? ?? ?'???? ?????? , ????? ??? ????? ?????? ?????? ?? 1.5 ?????? ???? [23] .

?????? ?????, ??????? ???????? [ ????? ??? ???? | ????? ]

????? ????? ????? ???? ????? ????? ???? ??????? ????? ??????? ????. ??? ??????? ??? ?????? ?????? ???? ???? ? ????? ?? ??? ??????? ?????? ????? ?????? ?????? ????? ????? ?? ??? ????? ????. ???? 1996 ????? ??? ?????? ????? ??? ????? ??? ????? ????? ????????? ???? ????? ??? ?????, ?? ??? ?? ???? ?????? ????? ??????? ?????? ??????? ?? ???? ??? (HIPAA).

?-5% ??????? ?? ????? ????? ??????? ????? ??????? ???, ??? ????? ?? 1.57 ?????? ???? ???? 1990 ??? ?-18 ?????? ???? ?-2014.

??????? ??????? ????? [ ????? ??? ???? | ????? ]

????? ?????? ???? ?? ?????? ??????? ?? ????? ????? ????? ?????. ?? ???, ????? ????? ????? ???? ??????? ????? ????? ?????, ???? ????? ??????? ??? ???? ????? [24] . ??? ???? 1998 ??????? ??????? ?????? ????? ?????? ????? ????? ??????, ?????? ?????? ????? ?? ????? [25] , ?????? ?????? ??????? ??????? ????? ???? ?????? [26] . ???? 2000 ?????? ???? ?? ???????? ???????? ????? [24] .

??? ?? [ ????? ??? ???? | ????? ]

??????? ???????? [ ????? ??? ???? | ????? ]

ויקישיתוף ???? ?????? ????? ?????? ???? ???? ? ??????????

?????:

??????:

????? ?????? [ ????? ??? ???? | ????? ]

  1. ^ ???? ??????? ?? ??? ?????? , ?? ???? , ??????? ????? , ???? ? ?? ?????
  2. ^ 1 2 .Collins F, Galas D. A new five-year plan for the U.S. Human Genome Project. Science. 1993 Oct 1;262(5130):43-6. doi: 10.1126/science.8211127. PMID 8211127 . ????? ???? ???
  3. ^ 1 2 3 4 5 6 ????? ?????? ?? ???? ???? ???? ???? ?- NIH
  4. ^ ????? ???? ???????? 11
  5. ^ https://www.ncbi.nlm.nih.gov/assembly/GCA_009914755.3
  6. ^ אתר למנויים בלבד ????? ?? , ????? ?? ????: ???? ???? ?-30 ???? ?????, ????? ????? ????? ?????? , ???? ???? , 31 ???? 2022
  7. ^ Sergey Nurk, Sergey Koren, Arang Rhie, Mikko Rautiainen, The complete sequence of a human genome , Science 376, 2022-04, ??' 44?53 doi : 10.1126/science.abj6987
  8. ^ Dulbecco R (March 1986). "A turning point in cancer research: sequencing the human genome". Science. 231 (4742): 1055?6.
  9. ^ ????? ?????? ???????? ????? ???? ??? ???????
  10. ^ https://www.nap.edu/catalog/1097/mapping-and-sequencing-the-human-genome
  11. ^ FAQ
  12. ^ https://web.ornl.gov/sci/techresources/Human_Genome/project/5yrplan/
  13. ^ https://web.ornl.gov/sci/techresources/Human_Genome/project/5yrplan/5yrplanrev.shtml
  14. ^ https://web.ornl.gov/sci/techresources/Human_Genome/hg5yp/goal.shtml
  15. ^ https://web.ornl.gov/sci/techresources/Human_Genome/hg5yp/index.shtml
  16. ^ ????? ???????? ???? ???? ???? , ????? ???? ???? ?????
  17. ^ Schmutz J, Wheeler J, Grimwood J, Dickson M, Yang J, Caoile C, Bajorek E, Black S, Chan YM, Denys M, Escobar J, Flowers D, Fotopulos D, Garcia C, Gomez M, Gonzales E, Haydu L, Lopez F, Ramirez L, Retterer J, Rodriguez A, Rogers S, Salazar A, Tsai M, Myers RM. Quality assessment of the human genome sequence. Nature. 2004 May 27;429(6990):365-8. doi: 10.1038/nature02390. PMID 15164052 .
  18. ^ S. G. Gregory, K. F. Barlow, K. E. McLay, R. Kaul, The DNA sequence and biological annotation of human chromosome 1 , Nature 441, 2006-05, ??' 315?321 doi : 10.1038/nature04727
  19. ^ אתר למנויים בלבד ????? ?? , ????? ?? ????: ???? ???? ?-30 ???? ?????, ????? ????? ????? ?????? , ???? ???? , 31 ???? 2022
  20. ^ ????? ? ????????? ????
  21. ^ Venter JC, Adams MD, Myers EW, Li PW, Mural RJ, Sutton GG, Smith HO, Yandell M, Evans CA, Holt RA, Gocayne JD, Amanatides P, Ballew RM, Huson DH, Wortman JR, Zhang Q, Kodira CD, Zheng XH, Chen L, Skupski M, Subramanian G, Thomas PD, Zhang J, Gabor Miklos GL, Nelson C, Broder S, Clark AG, Nadeau J, McKusick VA, Zinder N, Levine AJ, Roberts RJ, Simon M, Slayman C, Hunkapiller M, Bolanos R, Delcher A, Dew I, Fasulo D, Flanigan M, Florea L, Halpern A, Hannenhalli S, Kravitz S, Levy S, Mobarry C, Reinert K, Remington K, Abu-Threideh J, Beasley E, Biddick K, Bonazzi V, Brandon R, Cargill M, Chandramouliswaran I, Charlab R, Chaturvedi K, Deng Z, Di Francesco V, Dunn P, Eilbeck K, Evangelista C, Gabrielian AE, Gan W, Ge W, Gong F, Gu Z, Guan P, Heiman TJ, Higgins ME, Ji RR, Ke Z, Ketchum KA, Lai Z, Lei Y, Li Z, Li J, Liang Y, Lin X, Lu F, Merkulov GV, Milshina N, Moore HM, Naik AK, Narayan VA, Neelam B, Nusskern D, Rusch DB, Salzberg S, Shao W, Shue B, Sun J, Wang Z, Wang A, Wang X, Wang J, Wei M, Wides R, Xiao C, Yan C, Yao A, Ye J, Zhan M, Zhang W, Zhang H, Zhao Q, Zheng L, Zhong F, Zhong W, Zhu S, Zhao S, Gilbert D, Baumhueter S, Spier G, Carter C, Cravchik A, Woodage T, Ali F, An H, Awe A, Baldwin D, Baden H, Barnstead M, Barrow I, Beeson K, Busam D, Carver A, Center A, Cheng ML, Curry L, Danaher S, Davenport L, Desilets R, Dietz S, Dodson K, Doup L, Ferriera S, Garg N, Gluecksmann A, Hart B, Haynes J, Haynes C, Heiner C, Hladun S, Hostin D, Houck J, Howland T, Ibegwam C, Johnson J, Kalush F, Kline L, Koduru S, Love A, Mann F, May D, McCawley S, McIntosh T, McMullen I, Moy M, Moy L, Murphy B, Nelson K, Pfannkoch C, Pratts E, Puri V, Qureshi H, Reardon M, Rodriguez R, Rogers YH, Romblad D, Ruhfel B, Scott R, Sitter C, Smallwood M, Stewart E, Strong R, Suh E, Thomas R, Tint NN, Tse S, Vech C, Wang G, Wetter J, Williams S, Williams M, Windsor S, Winn-Deen E, Wolfe K, Zaveri J, Zaveri K, Abril JF, Guigo R, Campbell MJ, Sjolander KV, Karlak B, Kejariwal A, Mi H, Lazareva B, Hatton T, Narechania A, Diemer K, Muruganujan A, Guo N, Sato S, Bafna V, Istrail S, Lippert R, Schwartz R, Walenz B, Yooseph S, Allen D, Basu A, Baxendale J, Blick L, Caminha M, Carnes-Stine J, Caulk P, Chiang YH, Coyne M, Dahlke C, Mays A, Dombroski M, Donnelly M, Ely D, Esparham S, Fosler C, Gire H, Glanowski S, Glasser K, Glodek A, Gorokhov M, Graham K, Gropman B, Harris M, Heil J, Henderson S, Hoover J, Jennings D, Jordan C, Jordan J, Kasha J, Kagan L, Kraft C, Levitsky A, Lewis M, Liu X, Lopez J, Ma D, Majoros W, McDaniel J, Murphy S, Newman M, Nguyen T, Nguyen N, Nodell M, Pan S, Peck J, Peterson M, Rowe W, Sanders R, Scott J, Simpson M, Smith T, Sprague A, Stockwell T, Turner R, Venter E, Wang M, Wen M, Wu D, Wu M, Xia A, Zandieh A, Zhu X. The sequence of the human genome. Science. 2001 Feb 16;291(5507):1304-51. doi: 10.1126/science.1058040. Erratum in: Science 2001 Jun 5;292(5523):1838. PMID 11181995 .
  22. ^ Levy S, Sutton G, Ng PC, Feuk L, Halpern AL, Walenz BP, Axelrod N, Huang J, Kirkness EF, Denisov G, Lin Y, MacDonald JR, Pang AW, Shago M, Stockwell TB, Tsiamouri A, Bafna V, Bansal V, Kravitz SA, Busam DA, Beeson KY, McIntosh TC, Remington KA, Abril JF, Gill J, Borman J, Rogers YH, Frazier ME, Scherer SW, Strausberg RL, Venter JC. The diploid genome sequence of an individual human. PLoS Biol. 2007 Sep 4;5(10):e254. doi: 10.1371/journal.pbio.0050254. PMID 17803354 ; PMCID: PMC1964779.
  23. ^ Wadman M. James Watson's genome sequenced at high speed. Nature. 2008 Apr 17;452(7189):788. doi: 10.1038/452788b. PMID 18431822 .
  24. ^ 1 2 Ben-Asher E, Chalifa-Caspi V, Horn-Saban S, Avidan N, Olender Z, Adato A, Glusman G, Safran M, Rubinstein M, Lancet D. Harvesting the human genome: the Israeli perspective. Isr Med Assoc J. 2000 Sep;2(9):657-64. PMID 11062763 .
  25. ^ https://www.academy.ac.il/Index3/Entry.aspx?nodeId=842&entryId=18745
  26. ^ https://www.academy.ac.il/SystemFiles/21633.pdf