蹇呰鎬�锛�
闅ㄨ憲閱�(y墨)瀛�(xu茅)闋�(xi脿ng)鐩湪鑼冨湇鍏�(n猫i)鐨勪笉鏂烽枊(k膩i)灞�锛�鍩轰簬鏂颁竴浠f脯(c猫)搴忥紙NGS锛夋妧琛�(sh霉)鐨勫ぇ瑕�(gu墨)妯″熀鍥犵祫鏁�(sh霉)鎿�(j霉)閲囬泦宸茬稉(j墨ng)鎴愮偤閲嶈鐨勭爺绌�鎵嬫涔嬩竴銆傚湪姝ゅ熀绀�(ch菙)涓婂缓绔嬭捣渚�(l谩i)鐨勫ぇ鏁�(sh霉)鎿�(j霉)骞宠嚭(t谩i)锛�杓�浠ャ€佺殑鍋ュ悍鍜�閱�(y墨)瀛�(xu茅)鏁�(sh霉)鎿�(j霉)锛屽皣鐐�鐤剧梾鐨�瑷烘柗鑸�娌荤檪锛岃棩鐗�鐨�鐮旂櫦(f膩)鑸�鍊�(g猫)楂旂敤钘�锛屼汉缇ょ殑鍋ュ悍淇濋殰绛�鑷ㄥ簥鑸囪綁(zhu菐n)鍖栭啱(y墨)瀛�(xu茅)鐮旂┒甯朵締(l谩i)妤靛ぇ鐨勬帹鍕�(d貌ng)銆�
鍦�澶ц(gu墨)妯�浜虹兢涓�闁�(k膩i)灞�NGS娓�(c猫)搴�宸ヤ綔鏅�(sh铆)锛�妯f湰鐨�鎬�銆�鍙函婧愭€у皣鏈�(hu矛)灏�(du矛)绲�鐨勫ぇ鏁�(sh霉)鎿�(j霉)璩�(zh矛)閲忕敘(ch菐n)鐢熶笉鍙拷瑕栫殑褰遍熆銆�鐢变簬NGS娓�(c猫)搴�娴佺▼鐨勫京(f霉)闆滄€э紙鍙冭(ji脿n)涓嬪湒锛�NGS娓�(c猫)搴�宸ヤ綔缍�(j墨ng)鍏告祦绋嬶級锛屽湪妯f湰搴�(k霉)鍏�(n猫i)寰楀埌妯�(bi膩o)瑷�鐨�妯f湰锛屽湪娓�(c猫)搴忔祦绋嬩腑浠嶇劧鏈変竴瀹氬咕鐜�鏈�(hu矛)鐧�(f膩)鐢�娣锋穯鎴栬€�姹℃煋銆�鏍规摎(j霉)涓婂ぇ鍨�娓�(c猫)搴忎腑蹇冪殑浼扮畻锛岄毃钁楁脯(c猫)搴忔ǎ鏈噺鐨勫鍔�锛�涓€鍊�(g猫)鎿嶄綔娴佺▼瀹屽杽銆佸伐浣滀汉鍝�鍙楅亷(gu貌)鍩硅〒(x霉n)鐨勫熀鍥犳娓�(c猫)瀵�(sh铆)椹�(y脿n)瀹�锛�浠嶇劧鏈�鍙兘鐢�(ch菐n)鐢�鍗冨垎涔嬩竴宸﹀彸鐨勬ǎ鏈�鍋忓樊銆�
鍥犳锛�涓€绋�鏈夋晥鍗诲張鎴愭湰浣庡粔鐨勬ǎ鏈(bi膩o)瑷樿垏杩借工鎵嬫锛�鍦�澶�瑕�(gu墨)妯�NGS娓�(c猫)搴忓伐浣滀腑鍏锋湁閲嶈鐨�鐝�(xi脿n)瀵�(sh铆)鎰忕京銆傚湪缇庡湅(gu贸)ACMG锛堢編鍦�(gu贸)閱�(y墨)瀛�(xu茅)閬哄偝瀛�(xu茅)鑸囧熀鍥犵祫瀛�(xu茅)瀛�(xu茅)闄�锛�鐧�(f膩)甯�鐨�“鑷ㄥ簥瀵�(sh铆)椹�(y脿n)瀹�NGS娓�(c猫)搴忔(bi膩o)婧�(zh菙n)”涓�鎸囨槑锛�“鐩搁棞(gu膩n)瀵�(sh铆)椹�(y脿n)瀹ゅ繀闋�閲囧彇鎺柦锛�閬垮厤妯f湰娣锋穯锛屽苟鑳藉闅ㄦ檪(sh铆)杩借工鑸�纰鸿獚(r猫n)绲傜祼(ji茅)鏋�”銆�2017骞�3鏈堬紝涓彲閱�(y墨)瀛�(xu茅)鏈�(hu矛)鐥呯悊瀛�(xu茅)鍒嗘渻(hu矛)鐧�(f膩)甯冪殑“鑷ㄥ簥鍒嗗瓙鐥呯悊瀵�(sh铆)椹�(y脿n)瀹や簩浠e熀鍥犳脯(c猫)搴忔娓�(c猫)鍏辫瓨(sh铆)”涓�閫�(j矛n)涓€姝�闂℃槑锛�“鐐虹⒑淇濇娓�(c猫)閬�(gu貌)绋嬩腑妯f湰娌�(m茅i)鏈夋贩娣嗘垨姹℃煋锛屽彲閬哥敤澶氬€�(g猫)SNV浣嶉粸(di菐n)鎴栧叾浠栨(bi膩o)绨戒綔鐐烘ǎ鏈韩浠芥(bi膩o)璀�(sh铆)锛�sample ID锛夛紝鍦ㄦ娓�(c猫)鍓嶅皪(du矛)姣忓€�(g猫)妯f湰閫�(j矛n)琛�SNV浣嶉粸(di菐n)淇℃伅鐨勬脯(c猫)瀹氾紝鍦�NGS妾㈡脯(c猫)鍚庡皪(du矛)涓婅堪浣嶉粸(di菐n)閫�(j矛n)琛岃拷韫�锛岃瓑鏄庢矑(m茅i)鏈変氦鍙夋薄鏌�”銆�
鍚屾檪(sh铆)锛�涓€鍊�(g猫)澶у瀷娓�(c猫)搴�鏁�(sh霉)鎿�(j霉)搴�(k霉)涓�闈㈣嚚鐨勬ǎ鏈ó椤�杓冪偤绻�闆�锛�鍏朵腑鑸囪叓鐦ょ浉闂�(gu膩n)鐨勬ǎ鏈鍨嬪鐭宠牊鍖呭煁鍒囩墖锛�FFPE锛変腑鎻愬彇鐨�DNA銆�琛€婕夸腑鎻愬彇鐨勫惊鐠�(hu谩n)鑵槫DNA绛�锛屽潎鍦�姝g⒑妯�(bi膩o)瑷�銆�杩借工涔嬪锛岄倓闇€鍦�NGS鏂囧韩(k霉)鍒跺倷涔嬪墠锛屽皪(du矛)鍏�涓�DNA鐗囨闄嶈В绋嬪害閫�(j矛n)琛�鏈夋晥瑭�(p铆ng)浼帮紝寰炶€岄槻姝㈣唱(zh矛)閲忚純宸殑妯f湰甯朵締(l谩i)鐨�娓�(c猫)搴�鎴愭湰鎼嶅け銆�
鎶€琛�(sh霉)鏂规锛�
妯f湰妯�(bi膩o)瑷樿垏璺熻工鐩墠鐨�涓昏鏂规锛�鏄緸寰呮脯(c猫)搴忓垪锛�鍏ㄥ熀鍥�绲�銆佸叏澶栭’瀛愮祫銆�闈跺悜鐗囨绛夛級涓伕鎿�鑻ュ共妯�(bi膩o)蹇楁€у柈鍫垮熀鏍歌嫹閰歌畩鐣�锛�SNV锛�锛�鍦�妯f湰鍏ュ韩(k霉)鍙�娓�(c猫)搴忓墠锛�閫�(j矛n)琛�鍩轰簬閫欎簺浣嶉粸(di菐n)鐨�绛変綅鍩哄洜鍒嗗瀷锛�寰炶€岀⒑淇�妯f湰鐨�鏀堕泦鑸囦娇鐢ㄦ祦绋嬩腑娌�(m茅i)鏈夌櫦(f膩)鐢熸贩娣嗐€�鍦�娓�(c猫)搴忓畬鎴愬悗锛�鍐嶆鍒╃敤涔嬪墠閫欎簺浣嶉粸(di菐n)鐨勫熀鍥犳暩(sh霉)鎿�(j霉)锛�鑸囨脯(c猫)搴忕祼(ji茅)鏋�閫�(j矛n)琛�鍐嶆椹�(y脿n)璀�姣斿皪(du矛)锛�濡傛灉淇℃伅涓€鑷�锛屽嵆鍙⒑瑾�(r猫n)妯f湰姝g⒑鎬�锛屼互鍙�娓�(c猫)搴�瑕嗚搵鑼冨湇鑸�鏁�(sh霉)鎿�(j霉)璩�(zh矛)閲�鍧囬仈(d谩)鍒�妯�(bi膩o)婧�(zh菙n)銆�
鐐�閬�(d谩)鍒拌冻澶�鐨�鍗€(q奴)鍒�鏁堟灉锛�SNV闇€瑕�婊胯冻浠ヤ笅鍏�榛�(di菐n)妯�(bi膩o)婧�(zh菙n)锛�1锛�鍦�寰�妾㈡脯(c猫)浜�缇わ紙涓湅(gu贸)浜虹兢锛変腑鍏锋湁杓冮珮鐨�闆�鍚堝害鑸囧崁(q奴)鍒嗗姏锛�2锛夐渶閬�(d谩)鍒颁竴瀹氭暩(sh霉)閲�锛�30-40鍊�(g猫)锛変互鍦ㄥぇ瑕�(gu墨)妯�妯f湰搴�(k霉)涓粛鍙�鍗€(q奴)鍒嗘墍鏈夊€�(g猫)楂旀ǎ鏈�銆�鏍规摎(j霉)閫�鍏╅粸(di菐n)妯�(bi膩o)婧�(zh菙n)锛屽湅(gu贸)鍏�(n猫i)澶�浜洪鍩哄洜绲勬脯(c猫)搴忎腑蹇�Broad Institute鑸囪彲澶у熀鍥�鍧囬噰鐢�浜�缇庡湅(gu贸)Agena Bioscience鍏徃鍩轰簬鏍搁吀璩�(zh矛)璀�MassARRAY®闁�(k膩i)鐧�(f膩)鐨勬ǎ鏈�妯�(bi膩o)瑷�/杩借工鎶€琛�(sh霉)銆�
瑭叉妧琛�(sh霉)鏄埄鐢�MassARRAY®鍙互鍦ㄤ竴鍊�(g猫)鍙嶆噳(y墨ng)涓�瀹屾垚40澶�閲�SNV鍒嗗瀷鐨勭壒榛�(di菐n)锛屾牴鎿�(j霉)涓嶅悓娓�(c猫)搴�闋�(xi脿ng)鐩洰妯�(bi膩o)鐗囨锛�閬告搰绱�40鍊�(g猫)SNV浣嶉粸(di菐n)锛�鍖呮嫭鎬ф煋鑹查珨妯�(bi膩o)瑷�浣嶉粸(di菐n)锛岀敤浜庤拷韫�妯f湰鎬у垾淇℃伅锛�锛�骞�鍔犲叆鐢ㄤ簬妯f湰闄嶈В绋嬪害瑭�(p铆ng)浼�鐨�鐗囨瀹屾暣鎬�鍏�(n猫i)鍙�妯�(bi膩o)瑷�锛屽湪鍚屼竴娆″弽鎳�(y墨ng)涓紝鍚屾檪(sh铆)瀹屾垚灏�(du矛)妯f湰鐨勬(bi膩o)瑷�鑸�璩�(zh矛)鎺�锛岄毃鍚�浠�鍫�(b脿o)鍛�杌熶欢鑷嫊(d貌ng)鐢熸垚妾㈡脯(c猫)绲�(ji茅)鏋�锛屽苟鏁村悎閫�(j矛n)鍏�妯f湰搴�(k霉)鐩搁棞(gu膩n)鏁�(sh霉)鎿�(j霉)銆�
鏍规摎(j霉)妯f湰搴�(k霉)鑸�鏁�(sh霉)鎿�(j霉)搴�(k霉)瑕�(gu墨)妯�锛�MassARRAY®骞宠嚭(t谩i)鍙噰鐢�384鏍煎紡銆�鍦ㄤ竴澶╁収(n猫i)锛岃┎骞宠嚭(t谩i)鍙畬鎴愬皪(du矛)6寮�384瀛旇姱鐗囷紙鍗�2304鍊�(g猫)妯f湰锛�鐨勬(bi膩o)瑷�/杩借工鑸囪唱(zh矛)鎺�銆�
鍒╃敤MassARRAY®寮�(qi谩ng)澶х殑瀹氬埗鍔熻兘锛屽皪(du矛)涓嶅悓鐨勬脯(c猫)搴�闋�(xi脿ng)鐩�鍙互閬稿彇涓嶅悓鐨�SNV浣嶉粸(di菐n)锛屾暣鍚�鐐烘柊鐨�妾㈡脯(c猫)绲勫悎锛屽洜姝ゅ叿鏈夋洿楂樼殑闈堟椿鎬�鑸囬嚌灏�(du矛)鎬�銆�