{"id":146538,"date":"2023-08-21T07:21:02","date_gmt":"2023-08-21T07:21:02","guid":{"rendered":"https:\/\/labinsights.com\/acf_article\/%ec%97%91%ec%86%9c-%ec%97%bc%ea%b8%b0-%ec%84%9c%ec%97%b4-%eb%b6%84%ec%84%9d%ec%9c%bc%eb%a1%9c-%eb%8c%80%eb%a7%8c%ec%9d%98-%ed%9d%ac%ea%b7%80-%ec%a7%88%ed%99%98-%ec%a7%84%eb%8b%a8-%ea%b0%9c%ec%84%a0\/"},"modified":"2026-01-23T08:06:08","modified_gmt":"2026-01-23T08:06:08","slug":"exome-sequencing-improves-rare-disease-diagnostics-in-taiwan","status":"publish","type":"acf_article","link":"https:\/\/labinsights.com\/ko\/operations\/sequencing\/exome-sequencing-improves-rare-disease-diagnostics-in-taiwan\/","title":{"rendered":"\uc5d1\uc19c \uc5fc\uae30 \uc11c\uc5f4 \ubd84\uc11d\uc73c\ub85c \ub300\ub9cc\uc758 \ud76c\uadc0 \uc9c8\ud658 \uc9c4\ub2e8 \uac1c\uc120"},"content":{"rendered":"

\ucc28\uc138\ub300 \uc5fc\uae30 \uc11c\uc5f4 \uacb0\uc815(NGS) \uae30\uc220\uc774 \uc9c0\uc18d\uc801\uc73c\ub85c \ubc1c\uc804\ud568\uc5d0 \ub530\ub77c \uc804 \uc138\uacc4 \uc784\uc0c1 \uc720\uc804\ud559\uc790\uc640 \uc5f0\uad6c\uc790\ub4e4\uc740 \ud76c\uadc0 \uc9c8\ud658 \uc9c4\ub2e8\uc744 \uc704\ud55c \uc804\uccb4 \uc5d1\uc19c \uc5fc\uae30 \uc11c\uc5f4 \ubd84\uc11d\uc758 \uc5ed\ud560\uc744 \ud0d0\uad6c\ud558\uace0 \uc788\uc2b5\ub2c8\ub2e4. \uc544\uc2dc\uc544 \ud0dc\ud3c9\uc591 \uc9c0\uc5ed\uc5d0\uc11c\ub294 \ub300\ub9cc\uc774 \uc5f0\uad6c \ubc0f \uc784\uc0c1 \ubd84\uc57c\uc5d0\uc11c \uc5d1\uc19c \uc5fc\uae30 \uc11c\uc5f4 \ubd84\uc11d\uc744 \uc0ac\uc6a9\ud558\ub294 \uc120\ub450 \uc8fc\uc790\ub85c \ubd80\uc0c1\ud558\uace0 \uc788\uc2b5\ub2c8\ub2e4.<\/p>\n

\ub2e8\uc77c \uc720\uc804\uc790 \ub610\ub294 \ud328\ub110 \uc2dc\ud5d8\uc5d0 \ube44\ud574 \uc804\uc7a5 \uc5d1\uc19c \uc5fc\uae30 \uc11c\uc5f4 \ubd84\uc11d(WES)\uc740 \ud76c\uadc0 \uc720\uc804\uc790 \uc9c4\ub2e8\uc758 \uc9c4\ub2e8 \uc18d\ub3c4\uc640 \uc815\ud655\uc131\uc744 \ud5a5\uc0c1\uc2dc\ud0ac \uc218 \uc788\ub294 \uc0c1\ub2f9\ud55c \uc7a0\uc7ac\ub825\uc744 \uac00\uc9c0\uace0 \uc788\uc2b5\ub2c8\ub2e4. WES\ub294 \uc804\uc7a5 \uc5d1\uc19c(\uc720\uc804\uccb4\uc5d0\uc11c \ub2e8\ubc31\uc9c8\uc744 \ucf54\ub529\ud558\ub294 \ubd80\ubd84)\uc744 \uc870\uc0ac\ud568\uc73c\ub85c\uc368 \uc9c4\ub2e8\uc774 \uc2e0\uc18d\ud558\uace0 \ud655\uc2e4\ud558\uac8c \uc774\ub8e8\uc5b4\uc9c8 \ud655\ub960\uc744 \ub192\uc5ec\uc90d\ub2c8\ub2e4.<\/p>\n

\ud76c\uadc0 \uc720\uc804 \uc9c8\ud658\uc758 \uacbd\uc6b0, \uc2e0\uc18d\ud558\uace0 \uc815\ud655\ud55c \uc9c4\ub2e8\uc758 \uc774\uc810\uc774 \uc810\uc810 \ub354 \uba85\ud655\ud574\uc9c0\uace0 \uc788\uc2b5\ub2c8\ub2e4. \ud658\uc790\uc640 \uac04\ubcd1\uc778\uc5d0\uac8c\ub294 \uae34 \uc9c4\ub2e8 \uc5ec\uc815\uacfc \uad00\ub828\ub41c \ube44\uc6a9\uacfc \uc815\uc11c\uc801 \uc5b4\ub824\uc6c0\uc744 \uc904\uc5ec\uc8fc\uace0, \uc0dd\uba85\uc744 \uad6c\ud558\uac70\ub098 \uac1c\uc120\ud560 \uc218 \uc788\ub294 \uc870\uae30 \uce58\ub8cc\uc758 \uae30\ud68c\ub97c \uc5f4\uc5b4\uc90d\ub2c8\ub2e4. \uc758\ub8cc \uc2dc\uc2a4\ud15c\uc758 \uacbd\uc6b0, \uc5fc\uae30 \uc11c\uc5f4 \ubd84\uc11d\uc744 \ud1b5\ud55c \uc2e0\uc18d\ud55c \uc9c4\ub2e8\uc774 \ucd1d\uc758\ub8cc\ube44 \uc9c0\ucd9c\uc744 \uc904\uc77c \uc218 \uc788\ub2e4\ub294 \uc99d\uac70\uac00 \uc810\uc810 \ub354 \ub9ce\uc544\uc9c0\uace0 \uc788\uc2b5\ub2c8\ub2e4[1].<\/p>\n

Lab Insights\ub294 \ucd5c\uadfc \uc784\uc0c1 \uc720\uc804\ud559 \uc5f0\uad6c\uc640 \ud76c\uadc0 \uc9c8\ud658 \uce58\ub8cc\uc758 \uc5ec\ub7ec \uce21\uba74\uc5d0\uc11c \ub450\uac01\uc744 \ub098\ud0c0\ub0b4\uace0 \uc788\ub294 \ub300\ub9cc\uc5d0\uc11c WES\uac00 \uc5b4\ub5bb\uac8c \ud65c\uc6a9\ub418\uace0 \uc788\ub294\uc9c0 \uc54c\uc544\ubcf4\uae30 \uc704\ud574 \ub300\ub9cc\uc758 \uc120\ub3c4\uc801\uc778 \uc720\uc804\ud559\uc790 \uba87 \uba85\uacfc \uc774\uc57c\uae30\ub97c \ub098\ub204\uc5c8\uc2b5\ub2c8\ub2e4. \uc774\ub4e4\uc740 \ubaa8\ub450 \ud328\ub110 \uc2dc\ud5d8\ubcf4\ub2e4 WES\ub97c \uc120\ud638\ud558\uc9c0\ub9cc, \uc5ec\uc804\ud788 \uc77c\ubd80 \ud658\uc790\ub4e4\uc758 \uc811\uadfc\uc744 \uc81c\ud55c\ud558\ub294 \ub2e4\uc591\ud55c \uc7a5\ubcbd\uc744 \uc9c0\uc801\ud588\uc2b5\ub2c8\ub2e4.<\/p>\n

NTUH\uc758 \uc815\uae30\uc801\uc774\uace0 \uc2e0\uc18d\ud55c \uc5d1\uc19c \uc5fc\uae30 \uc11c\uc5f4 \ubd84\uc11d<\/h2>\n

WES \uc0ac\uc6a9\uc744 \ub298\ub9ac\uace0 \uc788\ub294 \uae30\uad00 \uc911 \ud558\ub098\ub294 \uc18c\uc544 \uc720\uc804\uccb4 \uc758\ud559 \ubd84\uc57c\uc5d0\uc11c \ud48d\ubd80\ud55c \uacbd\ud5d8\uc744 \uac00\uc9c4 \ud0c0\uc774\ubca0\uc774\uc758 \uc120\ub3c4\uc801\uc778 \uacf5\uacf5 \ubcd1\uc6d0\uc778 National Taiwan University Hospital(NTUH)\uc785\ub2c8\ub2e4. \uc774 \ubcd1\uc6d0\uc5d0\ub294 \ud76c\uadc0 \uc9c8\ud658 \uc9c4\ub2e8\uc744 \uc9c0\uc6d0\ud558\uace0 \uc5f0\uad6c\ub97c \uc218\ud589\ud558\ub294 NGS \uc2e4\ud5d8\uc2e4\uc774 \uc788\uc2b5\ub2c8\ub2e4(\ub300\ub9cc\uc758 3\ub300 \uc2e0\uc0dd\uc544 \uc120\ubcc4\uac80\uc0ac \uc13c\ud130 \uc911 \ud558\ub098\ub3c4 \uc774\uacf3\uc5d0 \uc18d\ud574 \uc788\uc2b5\ub2c8\ub2e4). \uc774 \ubcd1\uc6d0\uc5d0\uc11c\ub294 \uc774\ubbf8 \uc57d 3\ucc9c \uac74\uc758 WES \uc2dc\ud5d8\uc774 \uc218\ud589\ub418\uc5c8\uc2b5\ub2c8\ub2e4.<\/p>\n

\uc18c\uc544\uacfc \uc784\uc0c1 \uad50\uc218\ub85c Wuh Liang Hwu \ubc15\uc0ac, Yin-Hsiu Chien \ubc15\uc0ac \ubc0f \uc774 \ubd84\uc57c\uc758 \ub2e4\ub978 \uc120\ub3c4\uc801\uc778 NTUH \uc5f0\uad6c\uc790\ub4e4\uacfc \ud568\uaed8 \ub2e4\uc591\ud55c NGS \ud504\ub85c\uc81d\ud2b8\ub97c \uc774\ub04c\uace0 \uc788\ub294 Ni-Chung Lee \ubc15\uc0ac\ub294 NTUH\ub294 \uc218\ub144 \ub3d9\uc548 \uc790\uccb4\uc801\uc73c\ub85c \uc5ec\ub7ec \uac00\uc9c0 \uc720\uc804\uc131 \uc9c8\ud658 \ud328\ub110\uc744 \uac1c\ubc1c\ud574 \uc654\uc9c0\ub9cc WES\ub97c \uc704\ud574 \uadf8\uc911 \uc77c\ubd80\ub97c \ub2e8\uacc4\uc801\uc73c\ub85c \ud3d0\uc9c0\ud558\uace0 \uc788\ub2e4\uace0 \ub9d0\ud569\ub2c8\ub2e4.<\/p>\n

Lee\ub294 \u201c\uc2e4\ud5d8\uc2e4\uc5d0\uc11c\ub294 \ud328\ub110 \uc8fc\ubb38\uc5d0 \ud3ec\ud568\ub41c \uc720\uc804\uc790 \ubaa9\ub85d\uc774 \uc774 \ud658\uc790\uc758 \ubb38\uc81c\ub97c \ud574\uacb0\ud560 \uc218 \uc788\uc744 \ub9cc\ud07c \ud3ec\uad04\uc801\uc778\uc9c0 \ud56d\uc0c1 \ud655\uc2e0\ud560 \uc218 \uc5c6\uae30 \ub54c\ubb38\uc5d0 \uc5d1\uc19c \uc5fc\uae30 \uc11c\uc5f4 \ubd84\uc11d\uc744 \uc120\ud638\ud558\ub294 \uacbd\uc6b0\uac00 \ub9ce\uc2b5\ub2c8\ub2e4.\u201d\ub77c\uace0 \ub9d0\ud569\ub2c8\ub2e4. \u201c\uc6b0\ub9ac\ub294 \ud55c \ubc88\uc758 \uc2dc\ud5d8\uc73c\ub85c \ub2f5\uc744 \ucc3e\uc744 \uc218 \uc788\uae30\ub97c \ubc14\ub77c\uc9c0\ub9cc, \uc5b4\ub5a4 \uc2dc\ud5d8\uc744 \uc8fc\ubb38\ud560\uc9c0\ub294 \uc784\uc0c1\uc758\uac00 \ud658\uc790\uc640 \uc0c1\uc758\ud558\uc5ec \uacb0\uc815\ud558\ub294 \uac83\uc774 \uc77c\ubc18\uc801\uc785\ub2c8\ub2e4.\u201d<\/p>\n

Lee \ubc15\uc0ac\uc640 \ub3d9\ub8cc\ub4e4\uc740 \uc815\uae30\uc801\uc778 WES \uc2dc\ud5d8 \uc678\uc5d0\ub3c4 \uc6d0\uc778 \ubd88\uba85\uc73c\ub85c \uc2e0\uc0dd\uc544 \ub610\ub294 \uc18c\uc544 \uc9d1\uc911 \uce58\ub8cc\uc2e4\uc5d0 \uc785\uc6d0\ud55c \ud658\uc544\uc640 \uac19\uc774 \uae34\uae09\ud55c \uc9c4\ub2e8\uc774 \ud544\uc694\ud55c \uc544\uc774\ub4e4\uc744 \uc704\ud55c \uc2e0\uc18d \ud2b8\ub9ac\uc624 \uc5d1\uc19c \uc2dc\ud5d8\ub3c4 \uac1c\ubc1c\ud588\uc2b5\ub2c8\ub2e4. \uc774 \uc2dc\ud5d8\uc740 \uc57d \uc77c\uc8fc\uc77c \uc815\ub3c4 \uc18c\uc694\ub429\ub2c8\ub2e4(\uc77c\uc0c1\uc801\uc774\uace0 \uae34\uae09\ud558\uc9c0 \uc54a\uc740 \uacbd\uc6b0\uc5d0\ub294 \ud574\uc11d\uc5d0 \ucda9\ubd84\ud55c \uc2dc\uac04\uc744 \ud655\ubcf4\ud558\uae30 \uc704\ud574 2~3\uac1c\uc6d4 \uc815\ub3c4 \uc18c\uc694\ub418\uae30\ub3c4 \ud569\ub2c8\ub2e4).<\/p>\n

2016\ub144\ubd80\ud130 NTUH \uc720\uc804\ud559 \ud300\uc740 WES\/WGS\uc5d0\uc11c \ud76c\uadc0 \uc9c8\ud658 \uc9c4\ub2e8\uc744 \uc6a9\uc774\ud558\uac8c \ud558\uae30 \uc704\ud574 AI \uae30\ubc18 \ubcc0\uc774 \uc6b0\uc120\uc21c\uc704 \uc9c0\uc815 \ub3c4\uad6c\ub3c4 \uac1c\ubc1c\ud588\uc2b5\ub2c8\ub2e4. \uc774 \ub3c4\uad6c\ub294 \ub300\ub9cc\uc5d0\uc11c \uc5ec\ub7ec \uc8fc\uc694 \uc0c1\uc744 \uc218\uc0c1\ud588\uc2b5\ub2c8\ub2e4[2].<\/p>\n

VGH\uc758 \ube44\uc6a9 \uad00\ub9ac \ubc0f \ubd84\uc11d \uac1c\uc120<\/h2>\n

\uc18c\uc544 \uc720\uc804\uccb4 \uc758\ud559 \ubd84\uc57c\uc5d0\uc11c \uba85\uc131\uc774 \ub192\uc740 \ud0c0\uc774\ubca0\uc774\uc758 \ub610 \ub2e4\ub978 \uc120\ub3c4\uc801\uc778 \uacf5\uacf5 \ubcd1\uc6d0\uc778 \ud0c0\uc774\ubca0\uc774 Veterans General Hospital(VGH)\uc5d0\uc11c\ub3c4 \uc5f0\uad6c\uc640 \ud601\uc2e0\uc5d0 \ub300\ud55c \uc720\uc0ac\ud55c \ub178\ub825\uc73c\ub85c \uc5d1\uc19c \uc5fc\uae30 \uc11c\uc5f4 \ubd84\uc11d\uc758 \ud65c\uc6a9\ub3c4\ub97c \ub192\uc774\uace0 \uc788\uc2b5\ub2c8\ub2e4.<\/p>\n

VGH\uc758 Rare Disease Medical Research Center \ubc0f Genetic Counseling Center \uc18c\uc544\uacfc \ub514\ub809\ud130\uc778 Dau-Ming Niu \ubc15\uc0ac\ub294 \u201c\uc608\uc804\uc5d0\ub294 \ud45c\uc801 \ud328\ub110\uc744 \uc0ac\uc6a9\ud588\uc9c0\ub9cc \uc9c0\uae08\uc740 \uc804\uc7a5 \uc5d1\uc19c \ub610\ub294 \uc720\uc804\uccb4\ub97c \uc704\ud574 \uc774\ub7ec\ud55c \uc811\uadfc \ubc29\uc2dd\uc744 \uc644\uc804\ud788 \ud3ec\uae30\ud558\uace0 \uc788\uc2b5\ub2c8\ub2e4.\u201d\ub77c\uace0 \uc124\uba85\ud569\ub2c8\ub2e4. \u201c\uc77c\ubd80 \ud658\uc790\uc5d0\uac8c\ub294 \uc5ec\uc804\ud788 \ube44\uc6a9\uc774 \ubd80\ub2f4\uc2a4\ub7ec\uc6b4 \uc694\uc18c\uc774\uc9c0\ub9cc, \uc6b0\ub9ac\ub294 \ubd80\ub2f4\uc744 \ucd5c\uc18c\ud654\ud558\uace0 \uc774\ub7ec\ud55c \uc2dc\ud5d8\uc5d0 \ub300\ud55c \uc811\uadfc\uc131\uc744 \ub192\uc774\uae30 \uc704\ud574 \ucd5c\uc120\uc744 \ub2e4\ud558\uace0 \uc788\uc2b5\ub2c8\ub2e4.\u201d<\/p>\n

\ubbf8\uad6d \ucd5c\uace0\uc758 \uc784\uc0c1\uc758 \uacb8 \uc5f0\uad6c\uc790 \uc911 \ud55c \uba85\uc778 Niu \ubc15\uc0ac\ub294 \uc2dc\ud5d8 \uc8fc\ubb38\ubd80\ud130 \uacb0\uacfc \uc804\ub2ec, \ud544\uc694\ud55c \uc720\uc804 \uc0c1\ub2f4 \uc81c\uacf5\uae4c\uc9c0 \ubaa8\ub4e0 \uacfc\uc815\uc744 \ud3ec\ud568\ud558\ub294 \uc804\uc7a5 \uc5d1\uc19c \ub610\ub294 \uc720\uc804\uccb4 \uc5fc\uae30 \uc11c\uc5f4 \ubd84\uc11d\uc744 1,000\ubc88 \uc774\uc0c1 \uc218\ud589\ud588\ub2e4\uace0 \ub9d0\ud569\ub2c8\ub2e4. \uadf8\ub294 \uc9c4\ub2e8\uc774 \uba85\ud655\ud55c \uacbd\uc6b0\uc5d0\ub294 \uacb0\uacfc\ub97c \uc124\uba85\ud558\ub294 \uac83\uc774 \ube44\uad50\uc801 \uc27d\uc9c0\ub9cc, \uc6d0\uc778\uc774 \ubd88\ud655\uc2e4\ud55c \uacbd\uc6b0\uc5d0\ub294 \ud6e8\uc52c \ub354 \uc5b4\ub835\ub2e4\uace0 \ub9d0\ud569\ub2c8\ub2e4.<\/p>\n

VGH\ub294 \ud604\uc7ac \ub370\uc774\ud130 \ud574\uc11d \ud504\ub85c\uc138\uc2a4\ub97c \uac1c\uc120\ud558\uae30 \uc704\ud574 \uc678\ubd80 AI \ud68c\uc0ac\uc640 \ud611\ub825\ud558\uc5ec \uace0\uae09 \uc0dd\ubb3c\uc815\ubcf4\ud559 \ud50c\ub7ab\ud3fc\uc744 \uac1c\ubc1c\ud558\uace0 \uc788\uc2b5\ub2c8\ub2e4. \uc774\ub4e4\uc758 \ube44\uc804\uc740 \ubcf5\uc7a1\ud55c \uc720\uc804 \uc9c8\ud658\uc758 \uc9c4\ub2e8\uc744 \uc9c0\uc6d0\ud560 \ubfd0\ub9cc \uc544\ub2c8\ub77c \uc57d\ubb3c\uc720\uc804\uccb4\ud559 \ubc0f \ubcf4\uc778\uc790 \uc120\ubcc4\uac80\uc0ac\uc640 \uac19\uc740 \ub2e4\ub978 \uae30\ub2a5\ub3c4 \ud3ec\ud568\ud558\ub294 \ud3ec\uad04\uc801\uc778 \u2018\uc815\ubc00 \uc758\ud559 \uc9c0\uc6d0\u2019\uc744 \uad6c\ucd95\ud558\ub294 \uac83\uc785\ub2c8\ub2e4.<\/p>\n

CGMH\uc758 \ub1cc\uc804\uc99d \uc5f0\uad6c\ub97c \uc704\ud55c \uc5d1\uc19c<\/h2>\n

\ub300\ub9cc\uc758 \uc5ec\ub7ec \ubbfc\uac04 \ubcd1\uc6d0\uacfc \ud074\ub9ac\ub2c9\uc5d0\uc11c\ub3c4 \uc5d1\uc19c \uc5fc\uae30 \uc11c\uc5f4 \ubd84\uc11d \uc5f0\uad6c\uc5d0 \ucc38\uc5ec\ud558\uace0 \uc788\uc2b5\ub2c8\ub2e4. \ud55c \uc608\ub85c \uc804\uad6d\uc5d0 \uc9c0\uc810\uc744 \ub450\uace0 \uc788\ub294 \uc8fc\uc694 \ubcd1\uc6d0 \ub124\ud2b8\uc6cc\ud06c\uc778 Chang Gung Memorial Hospital(CGMH)\uc740 National Health Research Institute\uc640 \ud568\uaed8 \ub300\ub9cc \ud76c\uadc0 \uc9c8\ud658 \ud658\uc790 2\ucc9c \uba85\uc758 \uc5d1\uc19c \uc5fc\uae30 \uc11c\uc5f4\uc744 \ubd84\uc11d\ud558\ub294 \ud504\ub85c\uc81d\ud2b8\ub97c \uc9c4\ud589 \uc911\uc785\ub2c8\ub2e4.<\/p>\n

\ub0a8\ubd80 \uac00\uc624\uc29d\uc2dc\uc5d0 \uc704\uce58\ud55c CGMH \uc2dc\uc2a4\ud15c\uc758 \uc758\ub8cc \uc13c\ud130\uc778 Kaohsiung Chang Gung Memorial Hospital\uc740 \ub1cc\uc804\uc99d\uc5d0 \ucd08\uc810\uc744 \ub9de\ucd98 \uad6d\uc81c \uc5f0\uad6c \ud504\ub85c\uc81d\ud2b8\uc778 Epi25 collaborative\uc758 \ubaa8\uc9d1 \uc13c\ud130 \uc5ed\ud560\ub3c4 \ud558\uace0 \uc788\uc2b5\ub2c8\ub2e4. \uc774 \ubcd1\uc6d0\uc758 \uc758\ud559 \uc5f0\uad6c\uacfc \uad50\uc218\uc774\uc790 \uc720\uc804\uccb4\ud559 \ubc0f \ub2e8\ubc31\uc9c8\uccb4\ud559 \ud575\uc2ec \uc2e4\ud5d8\uc2e4 \ub514\ub809\ud130\uc778 Meng-Han Tsai \ubc15\uc0ac\ub294 \uc774 \uc5f0\uad6c\uc640 \ub2e4\ub978 \uc5f0\uad6c \ud504\ub85c\uc81d\ud2b8\ub97c \ud1b5\ud574 \uc774\ubbf8 2\ucc9c \uac1c\uc758 \uc5d1\uc19c\uc744 \uc218\uc9d1\ud588\ub2e4\uace0 \ub9d0\ud569\ub2c8\ub2e4.<\/p>\n

\u201c\uc608\uc804\uc5d0\ub294 \ube44\uc6a9\uc774 \uc800\ub834\ud55c \uc720\uc804\uc790 \ud328\ub110\uc744 \uc0ac\uc6a9\ud588\uc9c0\ub9cc \uacb0\uad6d \uc804\uc7a5 \uc5d1\uc19c \ub610\ub294 \uc720\uc804\uccb4 \uc5fc\uae30 \uc11c\uc5f4\uc774 \ud6e8\uc52c \ub0ab\ub2e4\ub294 \uac83\uc744 \uae68\ub2ec\uc558\uc2b5\ub2c8\ub2e4.\u201d\ub77c\uace0 \uadf8\ub294 \ud68c\uc0c1\ud569\ub2c8\ub2e4. \u201c400\uac1c \uc774\uc0c1\uc758 \uc720\uc804\uc790\uac00 \ub1cc\uc804\uc99d\uc744 \uc720\ubc1c\ud560 \uc218 \uc788\uace0 \ubaa8\ub4e0 \ub1cc\uc804\uc99d\uc774 \uc720\uc804\uc801 \uadfc\uac70\ub97c \uac00\uc9c0\uace0 \uc788\ub294 \uac83\uc740 \uc544\ub2c8\uae30 \ub54c\ubb38\uc5d0 \uadfc\ubcf8 \uc6d0\uc778\uc744 \uc774\ud574\ud558\uae30 \uc704\ud574\uc11c\ub294 \ub9ce\uc740 \uc815\ubcf4\uac00 \ud544\uc694\ud569\ub2c8\ub2e4.\u201d <\/p>\n

\ub1cc\uc804\uc99d \uc720\uc804\ud559 \ubd84\uc57c\uc758 \uc800\uba85\ud55c \uc804\ubb38\uac00\uc778 Tsai \ubc15\uc0ac\ub294 \ud658\uc790\ub4e4\uc758 \uc5d1\uc19c \uc5fc\uae30 \uc11c\uc5f4 \ubd84\uc11d \ube44\uc6a9\uc774 \uc5ec\uc804\ud788 \uc790\ube44 \ubd80\ub2f4 \uc2dc\uc7a5\uc758 \ub9ce\uc740 \uc0ac\ub78c\ub4e4\uc5d0\uac8c \uc7a5\ubcbd\uc774 \ub418\uace0 \uc788\uae30 \ub54c\ubb38\uc5d0 \uc790\uc2e0\uc758 \uc5f0\uad6c\ube44\ub97c \ud658\uc790\ub4e4\uc744 \uc704\ud55c \uc5d1\uc19c \uc5fc\uae30 \uc11c\uc5f4 \ubd84\uc11d \ube44\uc6a9\uc73c\ub85c \uc0ac\uc6a9\ud558\uae30\ub3c4 \ud569\ub2c8\ub2e4. \uadf8\ub294 \ub610\ud55c \ub9ce\uc740 \uc784\uc0c1\uc758\uac00 \uc720\uc804\uc790 \ub370\uc774\ud130 \ud574\uc11d\uc5d0 \ub300\ud55c \uc801\uc808\ud55c \uad50\uc721\uc744 \ubc1b\uc9c0 \ubabb\ud588\uace0, \ubd84\uc11d \uacfc\uc815\uc744 \uc9c0\uc6d0\ud558\ub294 \ud6cc\ub96d\ud55c \uc0dd\ubb3c\uc815\ubcf4\ud559\uc790\ub97c \ucc3e\uae30\uac00 \uc5b4\ub835\ub2e4\uace0 \uc9c0\uc801\ud558\uc9c0\ub9cc \uc0c1\ud669\uc774 \uac1c\uc120\ub418\uace0 \uc788\ub2e4\uace0 \ubbff\uc2b5\ub2c8\ub2e4.<\/p>\n

\ub300\ub9cc \uc5d1\uc19c \uc5fc\uae30 \uc11c\uc5f4 \ubd84\uc11d\uc758 \ubbf8\ub798<\/h2>\n

\uc5f0\uad6c\uc640 \uc784\uc0c1 \uce58\ub8cc\uc5d0 \uc801\uadf9\uc801\uc73c\ub85c \ud5cc\uc2e0\ud558\ub294 \uc784\uc0c1 \uc720\uc804\ud559\uc790 \ucee4\ubba4\ub2c8\ud2f0\ub97c \ubcf4\uc720\ud55c \ub300\ub9cc\uc740 \ud76c\uadc0 \uc9c8\ud658 \uc9c4\ub2e8 \ubd84\uc57c\uc5d0\uc11c \uc624\ub79c \uc5ed\uc0ac\ub97c \uc9c0\ub2cc \uc6b0\uc218\uc131\uacfc \ud601\uc2e0\uc758 \uc5ed\uc0ac\ub97c \uac00\uc9c0\uace0 \uc788\uc2b5\ub2c8\ub2e4[3].\u00a0\ub9e4\ub144 \uc5d1\uc19c \uc5fc\uae30 \uc11c\uc5f4 \ubd84\uc11d \uc11c\ube44\uc2a4 \uc8fc\ubb38\ub7c9\uc774 \uc99d\uac00\ud568\uc5d0 \ub530\ub77c \ub300\ub9cc\uc740 \uc9c0\uc5ed \ubc0f \uc804 \uc138\uacc4\uc5d0 \uc601\ud5a5\uc744 \ubbf8\uce60 \uc720\uc804\uccb4 \uc758\ud559\uc758 \ubc1c\uc804\uc744 \uacc4\uc18d \uc8fc\ub3c4\ud560 \uac83\uc73c\ub85c \ubcf4\uc785\ub2c8\ub2e4.<\/p>\n

\uadf8\ub7ec\ub098 \uc774\ub7ec\ud55c \ubc1c\uc804\uacfc \uc7a0\uc7ac\ub825\uc5d0\ub3c4 \ubd88\uad6c\ud558\uace0 \ub300\ub9cc\uc5d0\uc11c\ub294 \uacf5\uacf5 \ubd80\ubb38\uc5d0\uc11c WES\uc5d0 \ub300\ud55c \ubcf4\uc0c1\uc774 \uc5ec\uc804\ud788 \uc81c\ud55c\uc801\uc785\ub2c8\ub2e4. \ub9ce\uc740 \ud604\uc9c0 \ubcd1\uc6d0\ub4e4\uc774 \uacbd\uc7c1\ub825 \uc788\ub294 \uac00\uaca9\uc744 \uc81c\uc2dc\ud558\uace0 \uc5f0\uad6c\uc790\ub4e4\uc774 \uc5fc\uae30 \uc11c\uc5f4 \ubd84\uc11d \uc11c\ube44\uc2a4\ub97c \uc704\ud55c \uc5f0\uad6c \uc790\uae08\uc744 \ud655\ubcf4\ud558\uae30 \uc704\ud574 \ub178\ub825\ud558\uace0 \uc788\uc9c0\ub9cc, \uc77c\ubd80 \ud658\uc790, \ud2b9\ud788 \uc800\uc18c\ub4dd\uce35 \ud658\uc790\uc5d0\uac8c\ub294 \ube44\uc6a9\uc774 \uc5ec\uc804\ud788 \uc8fc\uc694 \uc7a5\ubcbd\uc73c\ub85c \ub0a8\uc544 \uc788\uc2b5\ub2c8\ub2e4.<\/p>\n

\uc544\uc2dc\uc544 \ubc0f \uc804 \uc138\uacc4\uc758 \ub2e4\ub978 \uad6d\uac00\uc640 \ub2ec\ub9ac \ub300\ub9cc\uc740 \uc2e0\uc0dd\uc544 \uc120\ubcc4\uac80\uc0ac\uc5d0\uc11c \uc804\uc7a5 \uc5d1\uc19c \ub610\ub294 \uc720\uc804\uccb4 \uc5fc\uae30 \uc11c\uc5f4 \ubd84\uc11d\uc758 \uc5ed\ud560\uc744 \ud0d0\uad6c\ud558\uae30 \uc704\ud55c \uc8fc\uc694 \uc5f0\uad6c\ub3c4 \uc544\uc9c1 \uc2dc\uc791\ud558\uc9c0 \uc54a\uc558\uc2b5\ub2c8\ub2e4. \uc77c\ubd80 \uc5f0\uad6c\uc790\ub4e4\uc740 \ubcf4\uac74 \uc815\ucc45 \uc785\uc548\uc790\ub4e4\uacfc \uc801\uadf9\uc801\uc73c\ub85c \ud611\ub825\ud558\uc5ec \ud604\uc9c0 \ud504\ub85c\uadf8\ub7a8\uc758 \uae30\ud68c\ub97c \ubaa8\uc0c9\ud558\uace0 \uc788\uc9c0\ub9cc, \uc774 \uc811\uadfc\ubc95\uc758 \ube44\uc6a9-\ud3b8\uc775\uacfc \uc0dd\uba85 \uc724\ub9ac\uc5d0 \ub300\ud55c \uc6b0\ub824\ub85c \uc778\ud574 \uc5ed\ud48d\uc744 \ub9de\uace0 \uc788\uc2b5\ub2c8\ub2e4.<\/p>\n

\uc88b\uc740 \uc18c\uc2dd\uc740 \ub300\ub9cc\uc740 \uac15\ub825\ud55c \uc758\ub8cc \uc2dc\uc2a4\ud15c\uacfc \uc758\ub8cc \uae30\uc220\uc5d0 \ub300\ud55c \ud0c4\ud0c4\ud55c \uc790\ube44 \ubd80\ub2f4 \uc2dc\uc7a5\uc744 \ubcf4\uc720\ud558\uace0 \uc788\ub2e4\ub294 \uac83\uc785\ub2c8\ub2e4. \ub610\ud55c Taiwan Foundation for Rare Disorders\uc640 \uac19\uc740 NGO\ub97c \ud1b5\ud55c \ud76c\uadc0 \uc9c8\ud658 \uc9c4\ub2e8\uc744 \uc704\ud55c \ub300\uccb4 \uc790\uae08\uc6d0\ub3c4 \uc788\uc2b5\ub2c8\ub2e4. \ub2e4\ub9cc, \ub300\ubd80\ubd84\uc758 \uc804\ubb38\uac00\ub4e4\uc740 \uc774\uac83\uc774 \uc784\uc0c1 \uc218\uc694\ub97c \ucda9\uc871\ud558\uae30\uc5d0 \ucda9\ubd84\ud558\uc9c0 \uc54a\ub2e4\ub294 \ub370 \ub3d9\uc758\ud569\ub2c8\ub2e4.<\/p>\n

\uc804\ubc18\uc801\uc73c\ub85c \uc544\uc2dc\uc544 \ud0dc\ud3c9\uc591 \uc9c0\uc5ed\uc758 \ub2e4\ub978 \uad6d\uac00\uc640 \ube44\uad50\ud560 \ub54c \ub300\ub9cc\uc740 \uc790\uad6d\ubbfc\uc774 \uace0\ud488\uc9c8\uc758 \ud76c\uadc0 \uc9c8\ud658 \uc9c4\ub2e8\uc744 \ubc1b\uc744 \uc218 \uc788\ub3c4\ub85d \ud558\ub294 \ub370 \uc788\uc5b4 \uc6b0\uc218\ud55c \uc131\uacfc\ub97c \uac70\ub450\uace0 \uc788\uc2b5\ub2c8\ub2e4. \ud604\uc7ac WES\uc5d0 \ub300\ud55c \uc811\uadfc\uc131\uc740 \uc5ec\uc804\ud788 \ubd88\uc644\uc804\ud558\uc9c0\ub9cc, \ud5a5\ud6c4 \uba87 \ub144 \ub3d9\uc548 \ub354 \ub9ce\uc740 \uc9c4\uc804\uc744 \uae30\ub300\ud560 \uc218 \uc788\uc2b5\ub2c8\ub2e4.<\/p>\n

\uc774 \uae00\uc740 \uad50\uc721 \ucf58\ud150\uce20\uc640 \ucee4\ubba4\ub2c8\ud2f0 \uad6c\ucd95\uc744 \ud1b5\ud574 \uc2e0\uc0dd\uc544 \uc120\ubcc4\uac80\uc0ac \ubc0f \ud76c\uadc0 \uc9c8\ud658 \uc9c4\ub2e8\uc758 \ubaa8\ubc94 \uc0ac\ub840\ub97c \ucd09\uc9c4\ud558\ub294 \uc774\ub2c8\uc154\ud2f0\ube0c\uc778 Project Strongbow\uc758 \uacf5\ub3d9 \ucc45\uc784\uc790\uc774\uc790 Roche Diagnostics Asia Pacific\uc758 \uc758\ub8cc \ucc38\uc5ec \ucc45\uc784\uc790\uc778 Will Greene\uc774 \uc791\uc131\ud588\uc2b5\ub2c8\ub2e4. \uc774 \uc8fc\uc81c\uc5d0 \ub300\ud55c \ub354 \ub9ce\uc740 \uae00\uacfc \ub3d9\uc601\uc0c1\uc744 \ubcf4\ub824\uba74 \uc2e0\uc0dd\uc544 \uc120\ubcc4\uac80\uc0ac \ud398\uc774\uc9c0<\/a>\ub97c \ubc29\ubb38\ud558\uc2ed\uc2dc\uc624.\u00a0<\/em><\/p>\n

\uc774 \uae00\uc758 \uc5f0\uad6c \ubc0f \uc791\uc131\uc740 Roche Diagnostics Asia Pacific \uc544\uc2dc\uc544 \ud0dc\ud3c9\uc591 \uc9c0\uc5ed \ube44\uc988\ub2c8\uc2a4 \uad00\ub9ac\uc790(\uc5fc\uae30 \uc11c\uc5f4 \ubd84\uc11d \uc0d8\ud50c \uc900\ube44) Patrick Danoy, Roche Diagnostics Taiwan \uc9c4\ub2e8 \uac00\uce58 \ubd84\uc11d\uac00 Alvin Hsiang, Roche Diagnostics Taiwan \uc9c4\ub2e8 \uac00\uce58 \ucc45\uc784\uc790 Sasa Sha\uc758 \uc9c0\uc6d0\uc744 \ubc1b\uc558\uc2b5\ub2c8\ub2e4.\u00a0<\/em><\/p>\n

\ucc38\uace0 \ubb38\ud5cc:<\/em><\/p>\n

[1]<\/a>\u00a0Dimmock, D.et al. (2021) \u2018Project Baby Bear: Rapid Precision Care incorporating rwgs in 5 California Children\u2019s hospitals demonstrates improved clinical outcomes and reduced costs of care\u2019, The American Journal of Human Genetics, 108(7), pp. 1231\u20131238. doi:10.1016\/j.ajhg.2021.05.008.<\/p>\n

[2]<\/a>\u00a0AI_Variant Prioritizer – a smart variant prioritization system. National Taiwan University Hospital. \ub9c1\ud06c:\u00a0https:\/\/www.ntuh.gov.tw\/SH\/News.action?q_type=A01&q_itemCode=13057&agroup=a<\/p>\n

[3]<\/a>\u00a0Chien, Y.-H. and Hwu, W.-L. (2023) \u2018The modern face of newborn screening\u2019, Pediatrics & Neonatology, 64. doi:10.1016\/j.pedneo.2022.11.001.<\/p>\n","protected":false},"excerpt":{"rendered":"

\ucc28\uc138\ub300 \uc5fc\uae30 \uc11c\uc5f4 \uacb0\uc815(NGS) \uae30\uc220\uc774 \uc9c0\uc18d\uc801\uc73c\ub85c \ubc1c\uc804\ud568\uc5d0 \ub530\ub77c \uc804 \uc138\uacc4 \uc784\uc0c1 \uc720\uc804\ud559\uc790\uc640 \uc5f0\uad6c\uc790\ub4e4\uc740 \ud76c\uadc0 \uc9c8\ud658 \uc9c4\ub2e8\uc744 \uc704\ud55c \uc804\uccb4 \uc5d1\uc19c \uc5fc\uae30 \uc11c\uc5f4 \ubd84\uc11d\uc758 \uc5ed\ud560\uc744 \ud0d0\uad6c\ud558\uace0 \uc788\uc2b5\ub2c8\ub2e4. \uc544\uc2dc\uc544 \ud0dc\ud3c9\uc591 \uc9c0\uc5ed\uc5d0\uc11c\ub294 \ub300\ub9cc\uc774 \uc5f0\uad6c \ubc0f \uc784\uc0c1 \ubd84\uc57c\uc5d0\uc11c \uc5d1\uc19c \uc5fc\uae30 \uc11c\uc5f4 \ubd84\uc11d\uc744 \uc0ac\uc6a9\ud558\ub294 \uc120\ub450 \uc8fc\uc790\ub85c \ubd80\uc0c1\ud558\uace0 \uc788\uc2b5\ub2c8\ub2e4. \ub2e8\uc77c \uc720\uc804\uc790 \ub610\ub294 \ud328\ub110 \uc2dc\ud5d8\uc5d0 \ube44\ud574 \uc804\uc7a5 \uc5d1\uc19c \uc5fc\uae30 \uc11c\uc5f4 \ubd84\uc11d(WES)\uc740 \ud76c\uadc0 \uc720\uc804\uc790 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