三九養(yǎng)生堂記者 鄧肯·蓋伊 報道
精彩| 論??(lun)文??(wen)通??(tong)訊??(xun)作?(zuo)者??(zhe)焦??(jiao)遠??(yuan)年??(nian)研??(yan)究??(jiu)員??(yuan)指??(zhi)出??(chu)??，高?(gao)質??(zhi)量??(liang)的??(de)參??(can)考??(kao)基??(ji)因??(yin)組?(zu)序??(xu)列??(lie)對??(dui)于?(yu)基??(ji)因??(yin)注?(zhu)釋??(shi)和??(he)相??(xiang)關??(guan)功??(gong)能??(neng)研?(yan)究??(jiu)至??(zhi)關??(guan)重??(zhong)要?(yao)??，也??(ye)是?(shi)大??(da)規(guī)??(gui)模??(mo)比??(bi)較??(jiao)基??(ji)因??(yin)組??(zu)學??(xue)和??(he)表??(biao)觀??(guan)遺??(yi)傳??(chuan)調??(tiao)控??(kong)研?(yan)究??(jiu)的??(de)重??(zhong)要??(yao)前??(qian)提??(ti)??。??不??(bu)過??(guo)??，目??(mu)前??(qian)多??(duo)數(shù)??(shu)基?(ji)因??(yin)組??(zu)序??(xu)列??(lie)中??(zhong)仍??(reng)然??(ran)存??(cun)在??(zai)一??(yi)些??(xie)組??(zu)裝??(zhuang)錯??(cuo)誤??(wu)??，給??(gei)相??(xiang)關??(guan)研??(yan)究?(jiu)帶??(dai)來??(lai)一??(yi)定??(ding)程??(cheng)度??(du)影??(ying)響??(xiang)??。而??(er)精??(jing)準??(zhun)區(qū)?(qu)分??(fen)和?(he)鑒??(jian)定??(ding)高??(gao)質?(zhi)量?(liang)與?(yu)低??(di)質??(zhi)量??(liang)的??(de)基??(ji)因??(yin)組??(zu)序?(xu)列??(lie)??，不??(bu)僅?(jin)可?(ke)以??(yi)為??(wei)基??(ji)因?(yin)組??(zu)組??(zu)裝??(zhuang)質??(zhi)量??(liang)提??(ti)供??(gong)評??(ping)估??(gu)依??(yi)據(jù)??(ju)和??(he)進??(jin)一??(yi)步??(bu)改??(gai)進??(jin)提??(ti)供??(gong)靶??(ba)點??(dian)??，也??(ye)可??(ke)以??(yi)為?(wei)后??(hou)期??(qi)比?(bi)較??(jiao)基??(ji)因??(yin)組??(zu)和??(he)功??(gong)能??(neng)研??(yan)究??(jiu)位?(wei)點??(dian)提??(ti)供??(gong)基??(ji)因??(yin)組?(zu)序??(xu)列??(lie)質??(zhi)量??(liang)認?(ren)證??(zheng)??。當?(dang)前??(qian)??，雖??(sui)然??(ran)已??(yi)有??(you)一??(yi)些??(xie)基??(ji)因??(yin)組??(zu)組??(zu)裝??(zhuang)質??(zhi)量??(liang)評??(ping)估??(gu)的??(de)方??(fang)法??(fa)和??(he)指??(zhi)標??(biao)??，但??(dan)其?(qi)大?(da)多??(duo)僅??(jin)提??(ti)供??(gong)一??(yi)個??(ge)總??(zong)體??(ti)的??(de)評??(ping)估??(gu)值??(zhi)??，沒??(mei)有??(you)針??(zhen)對??(dui)特??(te)定??(ding)區(qū)??(qu)域??(yu)或??(huo)堿??(jian)基?(ji)的??(de)評??(ping)估??(gu)信??(xin)息??(xi)??。 針??(zhen)對??(dui)這??(zhe)一??(yi)問??(wen)題??(ti)?，該??(gai)研??(yan)究??(jiu)團??(tuan)隊??(dui)研?(yan)發(fā)??(fa)的??(de)CRAQ通??(tong)過??(guo)將??(jiang)原??(yuan)始??(shi)測??(ce)序??(xu)序??(xu)列??(lie)比??(bi)對??(dui)到??(dao)組??(zu)裝??(zhuang)的?(de)基??(ji)因??(yin)組??(zu)上?(shang)?，基??(ji)于??(yu)序??(xu)列??(lie)比??(bi)對??(dui)產??(chan)生??(sheng)的?(de)有??(you)效??(xiao)“剪??(jian)切??(qie)對??(dui)齊??(qi)”信?(xin)息??(xi)?，可??(ke)精??(jing)準??(zhun)地??(di)檢??(jian)測??(ce)基??(ji)因??(yin)組??(zu)中??(zhong)存??(cun)在??(zai)的??(de)組??(zu)裝??(zhuang)錯??(cuo)誤??(wu)??。??結??(jie)合??(he)長??(chang)讀??(du)長??(chang)測??(ce)序??(xu)片??(pian)段??(duan)和??(he)短??(duan)讀??(du)長??(chang)測??(ce)序??(xu)片??(pian)段??(duan)與?(yu)基??(ji)因??(yin)組??(zu)比??(bi)對??(dui)的??(de)特??(te)征??(zheng)?，CRAQ可??(ke)以??(yi)識??(shi)別??(bie)基??(ji)因??(yin)組?(zu)內??(nei)小??(xiao)規(guī)?(gui)模??(mo)的??(de)區(qū)祝(qu)域??(yu)組??(zu)裝??(zhuang)錯??(cuo)誤??(wu)和??(he)大?(da)范??(fan)圍??(wei)的??(de)結??(jie)構??(gou)組??(zu)裝??(zhuang)錯??(cuo)誤??(wu)?，不??(bu)同??(tong)類??(lei)別??(bie)的??(de)錯??(cuo)誤??(wu)數(shù)??(shu)量??(liang)經??(jing)過??(guo)統(tǒng)??(tong)計??(ji)和??(he)標??(biao)準??(zhun)化??(hua)處??(chu)理??(li)后??(hou)被??(bei)轉??(zhuan)化??(hua)為??(wei)兩??(liang)個??(ge)組??(zu)裝??(zhuang)質??(zhi)量??(liang)評??(ping)估??(gu)指??(zhi)標??(biao)?，以??(yi)反??(fan)映?(ying)不??(bu)同??(tong)層??(ceng)面??(mian)的??(de)基??(ji)因??(yin)組??(zu)組??(zu)裝??(zhuang)質??(zhi)量?(liang)??。
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