\ucd5c\uadfc \uc9c8\ubcd1\uc774 \ub2e4\uc591\ud574\uc9c0\uace0 \uae30\ub300\uc218\uba85\uc774 \ub298\uba74\uc11c \uac1c\uc778 \ub9de\ucda4 \uc758\ub8cc\uc758 \uc218\uc694\uac00 \uc99d\uac00\ud558\uace0 \uc788\ub2e4. \uc720\uc804\uccb4 \ubd84\uc11d\uc740 \uac1c\uc778 \ub9de\ucda4 \uc758\ub8cc \uc218\ub2e8 \uc911 \ud558\ub098\ub85c, \uc554\uacfc \uac19\uc774 \uc720\uc804\uc790\uc5d0 \uc774\uc0c1\uc774 \uc0dd\uaca8 \ubc1c\uc0dd\ud558\ub294 \uc9c8\ubcd1\uc744 \uce58\ub8cc\ud558\ub294 \ub370 \ub3c4\uc6c0\uc774 \ub420 \uc218 \uc788\ub2e4. \ubcf8 \uae30\uc0ac\ub294 \uc720\uc804\uccb4 \ubd84\uc11d\uc758 \uac1c\ub150, \uc5f0\uad6c \ubc1c\uc804\uc0ac\uc640 \ud604\ud669\uc744 \ub2e4\ub8ec\ub2e4.<\/p>\n
\uc720\uc804\uccb4 \ubd84\uc11d \uc5f0\uad6c\ub780?<\/strong> DNA\uc758 \uc5fc\uae30\uc11c\uc5f4\uc740 A(\uc544\ub370\ub2cc), G(\uad6c\uc544\ub2cc), C(\uc0ac\uc774\ud1a0\uc2e0), T(\ud2f0\ubbfc) 4\uac1c \uc5fc\uae30\uc758 \uc870\ud569\uc73c\ub85c \uc774\ub904\uc9c4\ub2e4. \uc5fc\uae30 \uc21c\uc11c\ub97c \uc54c\uc544\ub0b4\ub294 \uac83\uc744 \uc5fc\uae30\uc11c\uc5f4 \ubd84\uc11d\uc774\ub77c\uace0 \ud55c\ub2e4. \uc54c\uc544\ub0b8 \uc5fc\uae30\uc11c\uc5f4\uc744 \ud1b5\ud574 \uc138\ud3ec\uc758 \uc804\uccb4 \uc720\uc804 \uc815\ubcf4\ub97c \uc54c\uc544\ub0b4\ub294 \uac83\uc774 \uc720\uc804\uccb4 \ubd84\uc11d \uc5f0\uad6c\uc758 \ubaa9\ud45c\ub2e4.<\/p>\n \uc5fc\uae30\uc11c\uc5f4 \ubd84\uc11d\ubc95 \ubc1c\uc804\uc0ac<\/strong> \uc720\uc804\uccb4 \ubd84\uc11d\uacfc \uacc4\uc0b0\uc0dd\ubb3c\ud559 <\/strong> 1990\ub144 \uc2dc\uc791\ub3fc 2003\ub144 \ub9c8\ubb34\ub9ac\ub41c \uc778\uac04 \uc720\uc804\uccb4 \ud504\ub85c\uc81d\ud2b8(Human Genome Project)\ub294 \uc778\uac04 \uc720\uc804\uccb4\uc758 30\uc5b5 \uc5fc\uae30\uc30d\uc744 \ucd5c\ucd08\ub85c \uc54c\uc544\ub0b8 \ud601\uc2e0\uc801\uc778 \uc131\uacfc\uc600\ub2e4. 1\uc138\ub300 \ubd84\uc11d\ubc95\uc778 \uc0dd\uc5b4 \uc5fc\uae30\uc11c\uc5f4 \ubd84\uc11d\ubc95\uc744 \uc774\uc6a9\ud574 13\ub144\uc758 \uae34 \uc138\uc6d4 \ub3d9\uc548 3\uc870 \uc6d0\uc774 \ub118\ub294 \ud070\ub3c8\uc774 \ub4e4\uc5c8\ub2e4. \uc774\ud6c4 \ub354 \ub098\uc740 \uc778\uac04 \ucc38\uc870 \uc720\uc804\uccb4 \uc9c0\ub3c4\ub97c \ub9cc\ub4e4\ub824\ub294 \ub178\ub825\uc774 \uc774\uc5b4\uc838 \ud604\uc7ac 2013\ub144 \uc644\uc131\ub41c GRCh38\uacfc \uac19\uc740 \uc720\uc804\uccb4 \uc9c0\ub3c4\uac00 \ud45c\uc900\uc73c\ub85c \uc4f0\uc778\ub2e4. \uc774\ucc98\ub7fc \uc5fc\uae30\uc11c\uc5f4\uc758 \ubd84\uc11d\uc774 \ube68\ub77c\uc9c0\uace0 \uc778\uac04 \ucc38\uc870 \uc720\uc804\uccb4 \uc9c0\ub3c4\uc758 \uc815\ud655\uc131\ub3c4 \ub192\uc544\uc9c0\uba74\uc11c \uc720\uc804\uccb4 \uac80\uc0ac\uc5d0 \uc18c\ubaa8\ub418\ub294 \ube44\uc6a9\uc774 100\ub9cc\uc6d0 \uc544\ub798\uae4c\uc9c0 \ub5a8\uc5b4\uc84c\ub2e4. \uac80\uc0ac \uc2dc\uac04\ub3c4 \uc9e7\uc544\uc838 \uc774\ud2c0 \uc548\uc5d0 \uacb0\uacfc\ub97c \ubc1b\uc544\ubcfc \uc218 \uc788\ub2e4.<\/p>\n \uc720\uc804\uccb4 \uc5fc\uae30\uc11c\uc5f4 \ubd84\uc11d\uacfc \uc554 \uce58\ub8cc<\/strong> \uc720\uc804\uccb4 \uc5fc\uae30\uc11c\uc5f4 \uc815\ubcf4\ub294 \uc554 \ud658\uc790\uc758 \uac1c\uc778 \ub9de\ucda4 \uc758\ub8cc\uc5d0 \ud544\uc218 \uc694\uc18c\ub2e4. \uc720\uc804\uccb4 \ubd84\uc11d\uc744 \ud1b5\ud574 \uc554\uc744 \uc608\ubc29\ud55c \ub300\ud45c\uc801\uc778 \uc0ac\ub840\uac00 \ubc30\uc6b0 \uc548\uc824\ub9ac\ub098 \uc878\ub9ac\ub2e4. \uadf8\ub294 \uac80\uc0ac\ub97c \ud1b5\ud574 \uc554 \uc5b5\uc81c \uc720\uc804\uc790\uc758 \uc77c\uc885\uc778 BRCA1 \uc720\uc804\uc790\uc5d0 \ubcc0\uc774\uac00 \uc0dd\uacbc\ub2e4\ub294 \uac83\uc744 \uc54c\uac8c \ub418\uc5c8\uace0, \uc554 \ubc1c\ubcd1\uc744 \ubc29\uc9c0\ud558\uae30 \uc704\ud574 \uc720\ubc29\uc808\uc81c\uc220\uc744 \ubc1b\uc558\ub2e4.<\/p>\n GIST \uc5f0\uad6c \uc131\uacfc<\/strong> \ud604\uc7ac \uc8fc\ub85c \uc0ac\uc6a9\ub418\ub294 2\uc138\ub300 \uc5fc\uae30\uc11c\uc5f4 \ubd84\uc11d\ubc95\uc740 DNA \uc870\uac01\uc744 \uc774\uc6a9\ud558\uba70 \uadf8 \ub300\ud45c\uc801\uc778 \uc608\uc2dc\uac00 \ubc14\ub85c \uc138\uacc4 \ucd5c\ub300 \uc720\uc804\uccb4 \ubd84\uc11d\uc7a5\ube44 \uae30\uc5c5 \uc77c\ub8e8\ubbf8\ub098\uac00 \uac1c\ubc1c\ud55c \ub9cc\ud0c0(Manta) \uc54c\uace0\ub9ac\uc998\uc774\ub2e4. \uc774\ub7ec\ud55c 2\uc138\ub300 \uc54c\uace0\ub9ac\uc998\uc740 \uc720\uc804\uccb4\uc758 \uad6d\uc18c\uc801\uc778 \ubcc0\uc774\ub098 \uac04\ub2e8\ud55c \uad6c\uc870 \ubcc0\uc774\ub9cc \uac80\ucd9c\ud560 \uc218 \uc788\ub2e4\ub294 \ud55c\uacc4\uac00 \uc788\ub2e4.<\/p>\n GIST \uc774\ud604\uc8fc \uad50\uc218 \uc5f0\uad6c\ud300\uc774 \uac1c\ubc1c\ud55c \uc54c\uace0\ub9ac\uc998 \uc778\ud3ec\uc9c0\ub178\uba38(InfoGenomeR)\ub294 \uc911\ub2e8\uc810 \uadf8\ub798\ud504(breakpoint graph)2)<\/sup> \uae30\ubc18\uc758 \uc804\uc0b0\ud559\uc801 \uae30\ubc95\uc744 \uc774\uc6a9\ud55c\ub2e4. \uc778\ud3ec\uc9c0\ub178\uba38 \uc54c\uace0\ub9ac\uc998\uc740 \uba3c\uc800 \ub9cc\ud0c0 \uc54c\uace0\ub9ac\uc998\uacfc \uac19\uc740 \uae30\uc874 \uc54c\uace0\ub9ac\uc998\uc744 \ud1b5\ud574 \ud30c\uc545\ud55c \ucd08\uae30 \uad6c\uc870 \ubcc0\uc774 \ub370\uc774\ud130\ub97c \uadf8\ub798\ud504\ub85c \ubcc0\ud658\ud55c\ub2e4. \uc774 \ucd08\uae30 \uad6c\uc870 \ubcc0\uc774 \ub370\uc774\ud130\ub294 \uc624\ub958\ub97c \uac00\uc9c0\uace0 \uc788\uae30 \ub54c\ubb38\uc5d0, \uc120\ud615\uacc4\ud68d\ubc953)<\/sup> \uc54c\uace0\ub9ac\uc998\uc744 \uc774\uc6a9\ud574 \uad6c\uc870 \ubcc0\uc774\uc640 \ubcf5\uc81c\uc218 \ubcc0\uc774\uac00 \uc11c\ub85c \uc77c\uad00\uc131 \uc788\ub294 \uac12\uc744 \uac00\uc9c0\ub3c4\ub85d \uadf8\ub798\ud504\ub97c \uc7ac\uad6c\uc131\ud55c\ub2e4. \uc608\ub97c \ub4e4\uc5b4, \ud2b9\uc815 DNA \uc601\uc5ed\uc758 \ubcf5\uc81c\uc218\ub294 2\uc778\ub370, 3\uac1c\uc758 \uad6c\uc870 \ubcc0\uc774\uac00 \uc5f0\uacb0\ub418\uc5b4 \uc788\ub2e4\uba74, \uc624\ub958\uac00 \uc788\uae30 \ub54c\ubb38\uc774\ubbc0\ub85c \uc774\ub97c \uc218\uc815\ud574\uc57c \ud55c\ub2e4. \uc774\ud6c4 \uc740\ub2c9 \ub9c8\ub974\ucf54\ud504 \ubaa8\ud6154)<\/sup>, \uc624\uc77c\ub7ec \uacbd\ub85c5)<\/sup> \ubb38\uc81c \ub4f1 \uc804\uc0b0\ud559\uc801 \ubc29\ubc95\uc744 \uc774\uc6a9\ud574 \ucd5c\uc885\uc801\uc73c\ub85c \uc554\uc138\ud3ec\uc758 \uc5fc\uae30\uc11c\uc5f4\uc744 \ubd84\uc11d\ud55c\ub2e4. \uc774\ud604\uc8fc \uad50\uc218 \uc778\ud130\ubdf0, \uc5f0\uad6c \ubc30\uacbd\uc744 \uc124\uba85\ud55c\ub2e4\uba74?<\/strong> \uc5f0\uad6c \uc218\ud589 \uc911 \uc5b4\ub824\uc6e0\ub358 \uc810\uc740?<\/strong> \uc55e\uc73c\ub85c \uc5f0\uad6c \uacc4\ud68d\uc774 \uad81\uae08\ud558\ub2e4.<\/strong> \uacc4\uc0b0\uc0dd\ubb3c\ud559\uc5d0 \uad00\uc2ec \uc788\ub294 \ud559\uc0dd\ub4e4\uc5d0\uac8c<\/strong> \uc774\ud604\uc8fc \uad50\uc218\ub294 \u201c\uc774 \uc54c\uace0\ub9ac\uc998\uc73c\ub85c \ub098\uc628 \uc554\uc138\ud3ec \uc720\uc804\uccb4\ub97c \ud65c\uc6a9\ud574 \uc554 \uc720\uc804\uc790 \ubc1c\ud604 \uc870\uac74\uc744 \uaddc\uba85\ud558\uace0, \uac1c\uc778 \ub9de\ucda4 \uc758\ub8cc\uc5d0 \uae30\uc5ec\ud560 \uac83\uc744 \uae30\ub300\ud55c\ub2e4\u201d\uace0 \uc804\ud588\ub2e4.<\/p>\n \uc6a9\uc5b4 \uc124\uba85<\/strong> \ucd5c\uadfc \uc9c8\ubcd1\uc774 \ub2e4\uc591\ud574\uc9c0\uace0 \uae30\ub300\uc218\uba85\uc774 \ub298\uba74\uc11c \uac1c\uc778 \ub9de\ucda4 \uc758\ub8cc\uc758 \uc218\uc694\uac00 \uc99d\uac00\ud558\uace0 \uc788\ub2e4. \uc720\uc804\uccb4 \ubd84\uc11d\uc740 \uac1c\uc778 \ub9de\ucda4 \uc758\ub8cc \uc218\ub2e8 \uc911 \ud558\ub098\ub85c, \uc554\uacfc \uac19\uc774 \uc720\uc804\uc790\uc5d0 \uc774\uc0c1\uc774 \uc0dd\uaca8 \ubc1c\uc0dd\ud558\ub294 \uc9c8\ubcd1\uc744 \uce58\ub8cc\ud558\ub294 \ub370 \ub3c4\uc6c0\uc774 \ub420 \uc218 \uc788\ub2e4. \ubcf8 \uae30\uc0ac\ub294 \uc720\uc804\uccb4 \ubd84\uc11d\uc758 \uac1c\ub150, \uc5f0\uad6c \ubc1c\uc804\uc0ac\uc640 \ud604\ud669\uc744 \ub2e4\ub8ec\ub2e4. \uc720\uc804\uccb4 \ubd84\uc11d \uc5f0\uad6c\ub780? \uae00\uc758 \ub0b4\uc6a9\uc744 \uc774\ud574\ud558\uae30 \uc704\ud574 \uac01\uac01\uc758 \uae00\uc790\uc758 \ubc30\uc5f4\uc744 \uc77d\ub4ef, \uc720\uc804\uccb4\ub97c \ubd84\uc11d\ud558\uae30 \uc704\ud574\uc11c\ub294 […]<\/p>\n","protected":false},"author":107,"featured_media":0,"comment_status":"open","ping_status":"open","sticky":false,"template":"","format":"standard","meta":{"advanced_seo_description":"","jetpack_seo_html_title":"","jetpack_seo_noindex":false,"jetpack_post_was_ever_published":false,"footnotes":"","jetpack_publicize_message":"","jetpack_publicize_feature_enabled":true,"jetpack_social_post_already_shared":true,"jetpack_social_options":{"image_generator_settings":{"template":"highway","enabled":false}}},"categories":[81],"tags":[159],"coauthors":[344],"jetpack_publicize_connections":[],"jetpack_featured_media_url":"","jetpack_sharing_enabled":true,"jetpack_shortlink":"https:\/\/wp.me\/pdL9j0-1mQ","jetpack-related-posts":[],"_links":{"self":[{"href":"https:\/\/gistnews.co.kr\/index.php?rest_route=\/wp\/v2\/posts\/5260"}],"collection":[{"href":"https:\/\/gistnews.co.kr\/index.php?rest_route=\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/gistnews.co.kr\/index.php?rest_route=\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/gistnews.co.kr\/index.php?rest_route=\/wp\/v2\/users\/107"}],"replies":[{"embeddable":true,"href":"https:\/\/gistnews.co.kr\/index.php?rest_route=%2Fwp%2Fv2%2Fcomments&post=5260"}],"version-history":[{"count":1,"href":"https:\/\/gistnews.co.kr\/index.php?rest_route=\/wp\/v2\/posts\/5260\/revisions"}],"predecessor-version":[{"id":5264,"href":"https:\/\/gistnews.co.kr\/index.php?rest_route=\/wp\/v2\/posts\/5260\/revisions\/5264"}],"wp:attachment":[{"href":"https:\/\/gistnews.co.kr\/index.php?rest_route=%2Fwp%2Fv2%2Fmedia&parent=5260"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/gistnews.co.kr\/index.php?rest_route=%2Fwp%2Fv2%2Fcategories&post=5260"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/gistnews.co.kr\/index.php?rest_route=%2Fwp%2Fv2%2Ftags&post=5260"},{"taxonomy":"author","embeddable":true,"href":"https:\/\/gistnews.co.kr\/index.php?rest_route=%2Fwp%2Fv2%2Fcoauthors&post=5260"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}
\n\uae00\uc758 \ub0b4\uc6a9\uc744 \uc774\ud574\ud558\uae30 \uc704\ud574 \uac01\uac01\uc758 \uae00\uc790\uc758 \ubc30\uc5f4\uc744 \uc77d\ub4ef, \uc720\uc804\uccb4\ub97c \ubd84\uc11d\ud558\uae30 \uc704\ud574\uc11c\ub294 \uc5fc\uae30\uc11c\uc5f4\uc744 \uc77d\uc5b4\uc57c \ud55c\ub2e4. \uc720\uc804\uccb4(genome)\ub294 \uc720\uc804\uc790(gene)\uc640 \uc5fc\uc0c9\uccb4(chromosome)\uc758 \ud569\uc131\uc5b4\ub85c, \uc720\uc804 \uc815\ubcf4\ub97c \ucd1d\uccb4\uc801\uc73c\ub85c \uc774\ub974\ub294 \ub9d0\uc774\ub2e4. \uc720\uc804\uccb4\ub294 \uc5fc\uc0c9\uccb4\uc758 \uc9d1\ud569\uc774\uba70, \uc5fc\uc0c9\uccb4\ub294 \uc720\uc804\uc790\uc758 \uc9d1\ud569\uc774\ub2e4. \uc720\uc804\uc790\ub294 \uc5fc\uae30\uc11c\uc5f4\uc758 \uc870\ud569\uc73c\ub85c \ub098\ud0c0\ub09c\ub2e4.<\/p>\n
\n\ud604\uc7ac \uc804\uccb4 \uc5fc\uae30\uc11c\uc5f4\uc744 \ud55c \ubc88\uc5d0 \uc77d\uc5b4\ub0b4\ub294 \uae30\uc220\uc740 \uc874\uc7ac\ud558\uc9c0 \uc54a\ub294\ub2e4. \ub530\ub77c\uc11c, \uc5fc\uae30\uc11c\uc5f4\uc744 \ubd84\uc11d\ud558\uae30 \uc704\ud574\uc11c\ub294 DNA \uc870\uac01\uc744 \uac01\uac01 \uc77d\uace0 \uc774\ub97c \uc870\ud569\ud574\uc57c \ud55c\ub2e4. \ucd08\uae30\uc5d0 \uc0ac\uc6a9\ub418\ub358 \uc0dd\uc5b4 \uc5fc\uae30\uc11c\uc5f4 \ubd84\uc11d\ubc951)<\/sup>\uacfc \uac19\uc740 1\uc138\ub300 \ubd84\uc11d\ubc95\uc740 \ud55c \ubc88\uc5d0 DNA \uc870\uac01\uc744 \ud558\ub098\uc529\ub9cc \uc77d\uc5b4 \uc2dc\uac04\uacfc \ube44\uc6a9\uc774 \ub9ce\uc774 \ub4e0\ub2e4\ub294 \ub2e8\uc810\uc774 \uc788\uc5c8\ub2e4. \uc774\ud6c4 \ucc28\uc138\ub300 \uc5fc\uae30\uc11c\uc5f4 \ubd84\uc11d(NGS)\uc73c\ub85c \ubd88\ub9ac\ub294 2\uc138\ub300 \ubd84\uc11d\ubc95\uc774 \ub4f1\uc7a5\ud588\ub2e4. \ubcd1\ub82c \ucc98\ub9ac\ubc29\uc2dd\uc73c\ub85c \ud55c \ubc88\uc5d0 \ub300\uc6a9\ub7c9 \uc2dc\ub8cc\ub97c \ucc98\ub9ac\ud560 \uc218 \uc788\uace0 \ubd84\uc11d \uacfc\uc815\uc758 \uc77c\ubd80\ub97c \uc790\ub3d9\ud654\ud574 \uc18d\ub3c4\uac00 \ube44\uc57d\uc801\uc73c\ub85c \ube68\ub77c\uc9c0\uace0 \uac00\uaca9\uc774 \uc800\ub834\ud574\uc84c\ub2e4. \uc774\ub7ec\ud55c \uc5fc\uae30\uc11c\uc5f4 \ubd84\uc11d\ubc95\uc758 \ubc1c\uc804\uc73c\ub85c \ud604\uc7ac \ud1b5\uc6a9\ub418\ub294 \uc804\uc7a5 \uc720\uc804\uccb4 \ubd84\uc11d(whole-genome sequencing)\uc740 \uc9e7\uc740 \uc2dc\uac04 \uc548\uc5d0 \uc720\uc804\uccb4 \uc804\uccb4\ub97c \ubd84\uc11d\ud560 \uc218 \uc788\ub2e4.<\/p>\n
\n\uacfc\ud559\uc790\ub4e4\uc740 \uc5ec\ub7ec \uc0ac\ub78c\uc758 \uc720\uc804\uccb4 \ubd84\uc11d \uacb0\uacfc\ub97c \uc870\ud569\ud574 \uc778\uac04 \ucc38\uc870 \uc720\uc804\uccb4 \uc9c0\ub3c4(human reference genome)\ub97c \ub9cc\ub4e4\uc5c8\ub2e4. \uc778\uac04\uc758 \uc5fc\uae30\uc11c\uc5f4\uc740 99.9%\uac00 \uc11c\ub85c \uac19\uc544 \uc778\uac04 \ucc38\uc870 \uc720\uc804\uccb4 \uc9c0\ub3c4\ub294 \uac1c\uc778 \uc720\uc804\uccb4\ub97c \ubd84\uc11d\ud560 \ub54c \ud45c\uc900\uc73c\ub85c \ud65c\uc6a9\ub418\uba70 \ud615\uc9c8\uc744 \ubc1c\ud604\uc2dc\ud0a4\ub294 \uc5fc\uae30\uc11c\uc5f4 \uc870\uac01\uc758 \uc815\ubcf4\ub97c \uc81c\uacf5\ud55c\ub2e4. \uc774\ub54c \uc9e7\uac8c \ub098\ub208 \uc870\uac01\uc744 \uc774\uc5b4\ubd99\uc778 \uc5fc\uae30\uc11c\uc5f4 \uc911 \uc758\ubbf8 \uc788\ub294 \ubd80\ubd84\uc744 \ucc3e\uc544\ub0b4\uae30 \uc704\ud574\uc11c \ucef4\ud4e8\ud130\uc758 \ub3c4\uc6c0\uc774 \ud544\uc694\ud558\ub2e4. \uc801\uc808\ud55c \uc54c\uace0\ub9ac\uc998\uc744 \uad6c\ud604\ud574\uc57c \ud558\uba70, \uc774\ub97c \ub2e4\ub8e8\ub294 \uac74 \uacc4\uc0b0\uc0dd\ubb3c\ud559\uc758 \uc601\uc5ed\uc774\ub2e4.<\/p>\n
\n\uc554 \uce58\ub8cc\ub294 \uc720\uc804\uccb4\ud559\uc758 \uc8fc\uc694 \ubaa9\ud45c\uc774\uc790 \ub3d9\ub825\uc774\ub2e4. \uc554\uc740 \uccb4\uc138\ud3ec\uc758 \uc5fc\uc0c9\uccb4 \ubcc0\uc774\ub85c \ubc1c\uc0dd\ud558\ub294 \uc9c8\ubcd1\uc774\uae30 \ub54c\ubb38\uc774\ub2e4. \uc5fc\uc0c9\uccb4 \ubcc0\uc774\uc5d0\ub294 \uc5fc\uc0c9\uccb4 \uad6c\uc870 \ubcc0\uc774(structure variation)\uc640 \ubcf5\uc81c\uc218 \ubcc0\uc774(copy number aberration)\uac00 \uc788\ub2e4. \uccb4\uc138\ud3ec \ubcc0\uc774\ub294 \ubaa8\ub4e0 \uc138\ud3ec\uac00 \uc544\ub2cc \uc77c\ubd80 \uc138\ud3ec\uc5d0\uc11c\ub9cc \ub098\ud0c0\ub098\uba70 \uc8fc\ub85c \ud6c4\ucc9c\uc801\uc73c\ub85c \ubc1c\uc0dd\ud55c\ub2e4.<\/p>\n
\nGIST \uc774\ud604\uc8fc \uad50\uc218 \uc5f0\uad6c\ud300\uc740 \uc0c8\ub85c\uc6b4 \uc54c\uace0\ub9ac\uc998\uc744 \uac1c\ubc1c\ud574 \uad6c\uc870 \ubcc0\uc774 \uac80\ucd9c\uc758 \uc815\ud655\ub3c4\uc640 \uc815\ubc00\ub3c4\ub97c \uac1c\uc120\ud588\ub2e4. \ub610\ud55c, \uc138\uacc4 \ucd5c\ucd08\ub85c \ubcc0\uc774\uac00 \uc77c\uc5b4\ub09c \uc554\uc138\ud3ec\uc758 \uc720\uc804\uccb4 \ubc30\uc5f4 \ud615\ud0dc\ub97c \ud558\ub098\uc758 \uc5fc\uae30 \ub2e8\uc704 \uc218\uc900\uc73c\ub85c \ubd84\uc11d\ud588\ub2e4.<\/p>\n
\n\uc778\ud3ec\uc9c0\ub178\uba38\ub294 \uc720\uc804\uccb4\uc758 \ubcf5\uc7a1\ud55c \ubcc0\uc774\ub97c \ud310\uc815\ud560 \uc218 \uc788\uc5b4 \uc720\uc804 \ubcc0\uc774 \uac80\ucd9c \uc624\ucc28\uac00 \uae30\uc874\uc5d0 \ube44\ud574 \ud06c\uac8c \uc904\uc5c8\ub2e4. \ub9cc\ud0c0(Manta) \uc54c\uace0\ub9ac\uc998\uc740 94.2%\uc758 \uad6c\uc870 \ubcc0\uc774 \uac80\ucd9c \uc815\ubc00\ub3c4, 90.4%\uc758 F-measure6)<\/sup>\ub97c \uc9c0\ub154\uc73c\ub098, \uc778\ud3ec\uc9c0\ub178\uba38\ub294 98.1%\uc758 \uad6c\uc870 \ubcc0\uc774 \uac80\ucd9c \uc815\ubc00\ub3c4\uc640 94.9%\uc758 F-measure\ub97c \ub2ec\uc131\ud588\ub2e4.<\/p>\n
\n\uc720\uc804\uccb4 \uc54c\uace0\ub9ac\uc998 \uc5f0\uad6c\ub97c \ubb3b\ub2e4<\/p><\/blockquote>\n
\n\uc6b0\ub9ac \uc5f0\uad6c\uc2e4\uc758 \uc8fc\uc694 \uc5f0\uad6c \uc8fc\uc81c \uc911 \ud558\ub098\uac00 \uc720\uc804\uccb4 \ubcc0\uc774\ub2e4. \uadf8\ub3d9\uc548 \ubcf5\uc81c\uc218 \ubcc0\uc774 \ubc1c\uad74 \uc54c\uace0\ub9ac\uc998\uc744 \uacc4\uc18d \uac1c\ubc1c\ud588\uace0, \uc774\ubc88 \ub17c\ubb38\uc5d0\uc11c \uad6c\uc870 \ubcc0\uc774 \ubc1c\uad74 \ubc0f \uc720\uc804\uccb4 \uad6c\uc870 \ubcf5\uc6d0\uc5d0 \uc9d1\uc911\ud588\ub2e4.<\/p>\n
\n\uc554\uc138\ud3ec\uc758 \uc720\uc804\uccb4 \ubc30\uc5f4 \ud615\ud0dc\ub97c \ub2e8\uc77c\uc5fc\uae30\uc11c\uc5f4 \uc218\uc900\uc73c\ub85c \ubcf5\uc6d0\ud558\ub294 \uae30\uc874 \uc5f0\uad6c\uac00 \uc5c6\uc5c8\ub2e4. \ub530\ub77c\uc11c \uc778\ud3ec\uc9c0\ub178\uba38\uc758 \uc815\ud655\uc131 \ubc0f \uc720\uc6a9\uc131\uc744 \uac80\uc99d\ud558\ub294 \ubc29\ubc95\ub3c4 \uc9c1\uc811 \uac1c\ubc1c\ud574\uc57c \ud588\ub2e4. \uc608\ub97c \ub4e4\uc5b4 \uc778\ud3ec\uc9c0\ub178\uba38\uc758 \uc815\ud655\uc131 \uac80\uc99d\uc744 \uc704\ud574 \uc2dc\ubbac\ub808\uc774\uc158 \ub370\uc774\ud130\ub97c \ub9cc\ub4e4\uace0, \ub2e4\uc591\ud55c \uce21\uba74\uc5d0\uc11c \uc774\ub97c \ubd84\uc11d\ud588\ub2e4. \ub610\ud55c \uc720\uc6a9\uc131\uc744 \uac80\uc99d\uc744 \uc704\ud574 \uc554 \ud658\uc790\uc758 \uc804\uc7a5 \uc720\uc804\uccb4 \ub370\uc774\ud130\uc5d0 \uc778\ud3ec\uc9c0\ub178\uba38\ub97c \uc801\uc6a9\ud588\ub2e4.<\/p>\n
\n\ud604\uc7ac\ub294 \uc6d0\uc778 \ubd88\uba85\uc778 \uc554 \ud658\uc790\uc758 \uac1c\uc778 \ub9de\ucda4 \uce58\ub8cc\ub97c \uc704\ud574 \ubd84\uc790\uc720\uc804\ud559\uc801 \uc778\uacf5\uc9c0\ub2a5 \uc2dc\uc2a4\ud15c\uc744 \uac1c\ubc1c\ud558\uace0 \uc788\ub2e4. \uc774 \uc2dc\uc2a4\ud15c\uc740 \uc554 \ud658\uc790\uc758 \uc804\uc7a5 \uc720\uc804\uccb4 \ub370\uc774\ud130\uc5d0\uc11c \ubcc0\uc774\ub97c \ubc1c\uad74\ud558\uace0, \ubcc0\uc774\ub97c \uac00\uc9c0\ub294 \uc720\uc804\uc790 \uc911 \uc554\uc758 \uc9c4\ud589\uc5d0\uc11c \uc8fc\uc694 \uc5ed\ud560\uc744 \ud558\ub294 \uc720\uc804\uc790\ub97c \uc9c0\ubaa9\ud55c\ub2e4. \ud574\ub2f9 \uc720\uc804\uc790\ub97c \ud45c\uc801\uc73c\ub85c \ud558\ub294 \uc57d\ubb3c \ucd94\ucc9c \uc2dc\uc2a4\ud15c \uac1c\ubc1c\uc744 \ubaa9\ud45c\ub85c \ud55c\ub2e4. \uc774\ub97c \uc704\ud574 \uc54c\uace0\ub9ac\uc998\uacfc \uba38\uc2e0\ub7ec\ub2dd, \ub525\ub7ec\ub2dd \ubc29\ubc95\ub860\uc744 \uac1c\ubc1c \uc911\uc774\ub2e4.<\/p>\n
\n\uacc4\uc0b0\uc0dd\ubb3c\ud559\uc740 \ubd84\uc790\uc0dd\ubb3c\ud559\uc5d0 \uad00\uc2ec\uc774 \ub9ce\uc740 \ud559\uc0dd\uc774 \uc990\uac81\uac8c \uc5f0\uad6c\ud560 \uc218 \uc788\ub294 \ubd84\uc57c\ub2e4. \ub610\ud55c \uc54c\uace0\ub9ac\uc998\uacfc \uba38\uc2e0\ub7ec\ub2dd \ubc29\ubc95\ub860\uc744 \uc798 \uc774\ud574\ud558\uace0, \uc774\ub97c \ub300\uc6a9\ub7c9 \ub370\uc774\ud130\uc5d0 \uc801\uc6a9\ud558\ub294 \ud504\ub85c\uadf8\ub798\ubc0d \ub2a5\ub825\uc774 \uc788\uc5b4\uc57c \ud55c\ub2e4. \ucef4\ud4e8\ud130\uacf5\ud559\uacfc \uc0dd\uba85\uacfc\ud559\uc744 \ubcf5\uc218 \uc804\uacf5\uc774\ub098 \ubd80\uc804\uacf5\uc73c\ub85c \ud558\uba74 \ucc98\uc74c\uc5d0 \uc5f0\uad6c \uc8fc\uc81c\ub97c \uc774\ud574\ud558\uae30 \uc27d\uc9c0\ub9cc, \ud544\uc218\ub294 \uc544\ub2c8\ub2e4.<\/p>\n
\n1)\uc0dd\uc5b4 \uc5fc\uae30\uc11c\uc5f4 \ubd84\uc11d\ubc95:<\/strong> DNA\ub97c \uc11c\ub85c \ub2e4\ub978 \uae38\uc774\ub85c \ubcf5\uc81c\ud55c \ub4a4, \uc774\ub97c \uae38\uc774\uc21c\uc73c\ub85c \ubc30\uc5f4\ud574 \ub05d\ubd80\ubd84\uc758 \uc5fc\uae30\ub97c \uc77d\uc5b4\ub0b4\ub294 \ubd84\uc11d\ubc95
\n2)Breakpoint graph:<\/strong> \uc720\uc804\uccb4 \uad6c\uc870\ub97c \ud45c\ud604\ud558\uae30 \uc704\ud574 \uc774\uc6a9\ud558\ub294, \uc810\uacfc \uc120\uc73c\ub85c \uc774\ub904\uc9c4 \uadf8\ub798\ud504
\n3)\uc120\ud615 \uacc4\ud68d\ubc95:<\/strong> \ud55c\uc815\ub41c \uc790\uc6d0\uc744 \ud6a8\uc728\uc801\uc73c\ub85c \ud560\ub2f9\ud574 \ubaa9\uc801 \ud568\uc218\ub97c \ucd5c\uc801\ud654\ud558\ub294 \ubc95
\n4)\uc740\ub2c9 \ub9c8\ub974\ucf54\ud504 \ubaa8\ud615:<\/strong> \uc2dc\uc2a4\ud15c\uc774 \u2018\uc740\ub2c9\ub41c \uc0c1\ud0dc\u2019\uc640 \u2018\uad00\ucc30 \uac00\ub2a5\ud55c \uacb0\uacfc\u2019\uc758 \ub450 \uac00\uc9c0 \uc694\uc18c\ub85c \uc774\ub8e8\uc5b4\uc84c\ub2e4\uace0 \ubcf4\ub294 \ud1b5\uacc4 \ubaa8\ud615
\n5)\uc624\uc77c\ub7ec \uacbd\ub85c:<\/strong> \uadf8\ub798\ud504\uc5d0 \uc874\uc7ac\ud558\ub294 \ubaa8\ub4e0 \ubcc0\uc744 \ud55c \ubc88\uc529\ub9cc \uc9c0\ub098\ub294 \uacbd\ub85c
\n6)F-measure:<\/strong> \uc815\ud655\ub3c4\uc640 \uc7ac\ud604\uc728\uc758 \uc870\ud654\ud3c9\uade0<\/em><\/p>\n","protected":false},"excerpt":{"rendered":"