曐尟揔梡偲側偭偰偄傞丆偑傫堚揱巕僷僱儖専嵏乮偑傫僎僲儉僾儘僼傽僀儕儞僌専嵏丆CGP専嵏乯偺夝愅寢壥傪僄僋僙儖偵庢傝崬傒丆偦偺昡壙傪巟墖偡傞僜僼僩僂僃傾偱偡丏惗怋嵶朎宯楍桼棃偱偁傞偙偲偑悇掕偝傟傞昦揑僶儕傾儞僩乮PGPV丆presumed germline pathogenic variant乯偺専摙偵昁梫側忣曬偺晅壛偑儊僀儞偺婡擻偲側偭偰偄傑偡偑丆栻嵻帯椕昗揑傪専摙偡傞捠忢偺僄僉僗僷乕僩僷僱儖偺偨傔偺僨乕僞惍棟偵傕偍巊偄偨偩偗傑偡丏杮僜僼僩僂僃傾偵傛傝丆斚嶨側儅僯儏傾儖嶌嬈偺帺摦壔丆岠棪壔傪恾傞偙偲偑壜擻偱偡丏崱屻巜掕偑梊掕偝傟偰偄傞乽僄僉僗僷乕僩僷僱儖幚巤壜擻偑傫僎僲儉堛椕楢実昦堾乿偱傕曋棙偵偍巊偄偄偨偩偗傑偡丏
亂懳墳僷僱儖亃仸尰嵼丆懠偺僷僱儖偵偮偄偰傕懳墳傪梊掕偟偰偄傑偡丏
彫悪斍乽堚揱巕僷僱儖専嵏 擇師揑強尒 姵幰奐帵 悇彠搙暿儕僗僩 v4乿偵懳墳偟傑偟偨丏乮2023/11/13乯
傾僲僥乕僔儑儞夝愅偱AlphaMissense偺僗僐傾丆昦尨惈昞帵偵懳墳偟傑偟偨丏乮2023/9/28乯
傾僲僥乕僔儑儞夝愅偱ToMMo 54KJPN偺寬忢恖傾儕儖昿搙昞帵偵懳墳偟傑偟偨丏乮2023/7/15乯
偑傫堚揱巕僷僱儖専嵏偍傛傃僄僉僗僷乕僩僷僱儖娭楢僼傽僀儖偑曐懚偝傟偰偄傞僼僅儖僟傪僗僉儍儞偟偰C-CAT ID偍傛傃娭楢僼傽僀儖傪拪弌偟丆Varporter夝愅寢壥偺SNV丆CNV丆Fusion傪娷傓忣曬偲慻傒崌傢偣偰堦棗昞傪嶌惉偱偒傑偡丏堦棗昞偼僽儔僂僓偱昞帵偱偒丆専嶕偵傛傞拪弌傗僋儕僢僋偱僼傽僀儖傪奐偔偙偲傕偱偒傑偡丏SNV丆CNV丆Fusion傪廤寁偟僌儔僼傕嶌惉壜擻偱偡乮Pathogenic側暔偺傒偺廤寁傕壜擻乯丏奜晹偲偺僀儞僞乕僱僢僩愙懕偼側偄偨傔僙僉儏儕僥傿忋傕埨慡偱偡丏Varporter偲慻傒崌傢偣偰娙堈揑側僨乕僞儀乕僗偲偟偰偍巊偄偄偨偩偗傑偡丏
亂摦嶌娐嫬亃Windows偍傛傃Microsoft Excel
Varporter for Guardant360 v1.0.2乮2024/04/11乯 Varporter Scan v1.3.0乮2024/01/09乯
TP53奼挘斉乮ClinGen婎弨偱偺昡壙曗彆乯偼忋婰偵娷傑傟偰偍傝傑偡丏乮zip埑弅僼傽僀儖[梫夝搥]丆帋梡壜乯
亂柶愑帠崁亃杮僜僼僩僂僃傾偼偁偔傑偱夝愅偺巟墖傪峴偆傕偺偱偁傝丆巊梡幰偺愑擟偵偍偄偰屼棙梡壓偝偄丏奐敪幰偼偄偐側傞愑擟傕晧偄偐偹傑偡偺偱屼椆彸偔偩偝偄丏
亂偍栤偄崌傢偣愭亃儊乕儖傾僪儗僗丗mgs.rif.smu@gmail.com
丂嶥杫堛壢戝妛堛妛晹 晬懏偑傫尋媶強乮媽僼儘儞僥傿傾堛妛尋媶強乯 僎僲儉堛壢妛晹栧傑偱
丂帋梡偺姶憐丆梫朷丆帋梡婜娫偺墑挿丆傑偨摫擖偵娭偡傞屼幙栤側偳偁傝傑偟偨傜丆忋婰傑偱屼楢棈偔偩偝偄丏
亂摫擖幚愌亃21巤愝乮偑傫僎僲儉堛椕拞妀嫆揰昦堾丗侾偐強丆嫆揰昦堾丗俋偐強丆楢実昦堾丗11偐強乯乮2024擭3寧尰嵼丆帠柋庤懕偒拞傪娷傓乯
丂摉堾偺堚揱巕恌椕晹栧偱偼丄擇師揑強尒媈偄僶儕傾儞僩乮Putative Germline Pathogenic Variant: PGPV乯丆傑偨擇師揑強尒僶儕傾儞僩乮Pathogenic Germline Variant: PGV乯偵偮偄偰岤楯壢尋彫悪斍偺僼儘乕偵増偭偰敾抐偟僄僉僗僷乕僩僷僱儖偱丆堚揱奜棃悇彠桳柍偵偮偄偰僐儊儞僩偟偰偍傝傑偡丅Varporter巊梡偵傛傝丆偡傋偰偺僶儕傾儞僩傪弖帪偵堦棗偱妋擣偡傞偙偲偑偱偒傞傛偆偵側傝丆germline桼棃偺壜擻惈偵偮偄偰懡妏揑側帇揰偱専摙偱偒傞傛偆偵側傝傑偟偨丅傑偨丆彫悪斍偺儕僗僩偵奩摉偡傞堚揱巕偐斲偐妋幚偵僗僋儕乕僯儞僌偡傞偙偲偑偱偒傞揰傗昿搙傗僶儕傾儞僩昡壙偺僒僀僩傪偡偖偵嶲徠偱偒傞揰傕丆僗僋儕乕僯儞僌嶌嬈岠棪壔偵宷偑偭偰偍傝戝曄彆偐偭偰偍傝傑偡丏 (2023/3/27)
丂摉堾偱偼偑傫僎僲儉堛椕嫆揰昦堾偲偟偰擭娫500審掱搙乮帺巤愝400審丆楢実100審乯偺徢椺傪僄僉僗僷乕僩僷僱儖乮埲壓EP乯偱専摙偟偰偄傑偡丏摉堾偱偼EP偺慜偵嘆 Molecular MTG偲嘇 Clinical MTG偺2偮偺帠慜儈乕僥傿儞僌傪幚巤偟偰偄傑偡丏嘆 Molecular MTG偱偼偑傫堚揱巕僷僱儖専嵏偱専弌偝傟偨堚揱巕曄堎偵偮偄偰Pathogenicity乮昦尨惈乯偲PGPV乮presumed germline pathogenic variant丆惗怋嵶朎宯楍桼棃偱偁傞偙偲偑悇掕偝傟傞昦揑僶儕傾儞僩乯偵偮偄偰専摙偟丆昦揑偲敾掕偟偨堚揱巕曄堎偵偮偄偰嘇 Clinical MTG偱悇彠帯椕偵偮偄偰専摙偡傞偲偄偆棳傟偲側偭偰偄傑偡丏偙偺塣梡偺拞偱儃僩儖僱僢僋偲側傞偺偑嘆 Molecular MTG偱巊梡偡傞Curation儗億乕僩偺嶌惉偵側傝傑偡丏Curation儗億乕僩偼慡偰偺堚揱巕曄堎偵偮偄偰ClinVar側偳7庬椶埲忋偺岞嫟僨乕僞儀乕僗偺撪梕傪傑偲傔偨傕偺偱丆摉堾偱偼庤嶌嬈偱XML僼傽僀儖偐傜堚揱巕曄堎忣曬傪僄僋僙儖僼傽僀儖偵揮婰偟丆奺乆偺僨乕僞儀乕僗傪嶲徠偟偰昁梫忣曬傪婰擖偟偰嶌惉偟偰偍傝丆曄堎悢偺懡偄徢椺偱偼1帪娫掱搙梫偡傞偙偲傕偁傝丆壗偲偐帺摦壔偱偒側偄偐偲峫偊偰偍傝傑偟偨丏尰忬丆婔偮偐偺EP巟墖僔僗僥儉偱Curation偑帺摦壔偝傟偰偄傑偡偑丆偳傟傕崅妟偱摫擖偼擄偟偄偲峫偊偰偄傑偟偨丏
丂偦傫側拞丆Varporter偺僨儌巊梡偺徯夘偑偁傝丆憗懍巊梡偟偰傒傑偟偨丏傑偢巊梡偟偰嬃偄偨偺偑丆僄僋僙儖儀乕僗偺僔儞僾儖側僔僗僥儉偱巊偄曽偑旕忢偵娙扨丆摦嶌偑憗偔丆寉偄偲偄偆揰偱偟偨丏傑偨丆XML僼傽僀儖偐傜帺摦偱曄堎忣曬傪拪弌丆儕僗僩壔偟丆Curation儗億乕僩偵昁梫側僨乕僞儀乕僗偺杦偳偺忣曬偑帺摦擖椡偝傟丆偟偐傕奩摉Web儁乕僕偵儕儞僋偑揬傜傟偰偄傞偺偱丆忣曬僜乕僗傪偡偖偵嶲徠偡傞偙偲偑偱偒傞揰偑傑偝偵乽醳偄偲偙傠偵庤偑撏偔乿婡擻偱旕忢偵廳曮偟偰偄傑偡丏
丂巹偼偑傫栻暔椕朄傪愱栧偲偟偰偄傑偡偺偱丆PGPV偵娭偟偰偼彫悪斍偺儕僗僩傪嶲峫偵偡傞掱搙偱徻嵶偼堚揱恌椕壢偵擟偣偰偄偨偺偱偡偑丆Varporter偵偼Varsome側偳PGPV梡偺嶲徠僨乕僞儀乕僗偑廩幚偟偰偄偰丆嶥杫堛戝偱巊梡偝傟偰偄傞徻嵶側堚揱僇僂儞僙儕儞僌僔乕僩傕帺摦嶌惉偝傟傑偡偺偱丆旕忢偵曌嫮偵側傝傑偟偨丏
丂忋婰偺傛偆側廩幚偟偨撪梕偱旕忢偵椙怱揑側壙奿愝掕偱偟偨偺偱丆摉堾偱偼摫擖傪懄寛抳偟傑偟偨丏EP弨旛偺岠棪壔偩偗偱側偔丆PGPV偵嫽枴偺偁傞栻暔椕朄堛偺僗僉儖傾僢僾偵傕桳梡側嫵嵽偵側傞偲峫偊偰偄傑偡丏(2022/5/18幏昅丆2022/8/23婰柤岞奐)
丂尰嵼丆偑傫僎僲儉堛椕楢実昦堾偵旕忢嬑擣掕堚揱僇僂儞僙儔乕偲偟偰嬑柋偟偰偄傑偡丏擭娫30-50審掱搙偺徢椺偺堚揱巕曄堎偵偮偄偰丆僄僉僗僷乕僩僷僱儖乮EP乯採帵慜偵Secondary Findings乮SF丆2師揑強尒乯偲偟偰奐帵偑昁梫偐斲偐偺昡壙傪峴偭偰偄傑偡丏
丂偙傟傑偱偼丆堚揱巕曄堎偵娭傢傞XML僼傽僀儖忣曬乮曄堎堚揱巕丆曄堎売強丆傾儗儖昿搙側偳乯傗丆奺庬僨乕僞儀乕僗偵傛傞昡壙丆彫悪斍偺儕僗僩忣曬側偳傪庤嶌嬈偱僄僋僙儖僼傽僀儖偵揮婰偟丆SF奐帵梫斲乮埬乯傪嶌惉偟偰偄傑偟偨丏扴摉堛巘偑敾抐偱偒傞傛偆丆昁梫偵墳偠偰丆嶌惉偟偨僄僋僙儖僼傽僀儖偵壛偊偰奺庬僨乕僞儀乕僗偺儕儞僋愭側偳傪忣曬嫟桳僣乕儖偵揮婰偟偰偄傑偟偨丏曄堎堚揱巕悢偺懡偄帪傗丆庤娫偺偐偐傞偲偒乮僨乕僞儀乕僗専嶕帪偵曄堎売強偐傜偼僨乕僞側偟偺応崌偵條乆側傾僾儘乕僠偱妋擣偡傞側偳乯偵偼丆1椺偁偨傝1帪娫傪挻偊傞偙偲傕搙乆偁傝傑偟偨丏埲慜丆偑傫僎僲儉堛椕嫆揰昦堾偵嬑柋偟偰偄偨帪偼丆EP慜偵丆堚揱巕曄堎偺昦尨惈傗惗怋嵶朎桼棃偲悇掕偱偒傞偐側偳傪丆暋悢偺椪彴堚揱愱栧堛偲暋悢偺擣掕堚揱僇僂儞僙儔乕偱媍榑偡傞偙偲偱丆SF偲偟偰偺奐帵昁梫惈傪僟僽儖僠僃僢僋偱偒偰偄傑偟偨偑丆尰嵼偼侾恖偱昡壙偟偰偄傞偺偱丆昡壙偺昳幙偑揔愗偵曐偨傟偰偄傞偐乮懳徾堚揱巕偺廍偄楻傟傗揮婰儈僗側偳偑柍偄偐傪娷傓乯丆傛傝怲廳偵壗搙傕妋擣偡傞昁梫偑偁傝傑偡丏
丂Varporter傪梡偄傞偙偲偱丆廫暘側僗僞僢僼偑偄側偄偑傫僎僲儉楢実昦堾偱傕昳幙偺妋曐偑偱偒丆巊梡曽朄傕堈偟偔丆堚揱巕悢偑懡偔偰傕抁帪娫偱寢壥偑摼傜傟傑偡丏傑偨丆堚揱惈庮釃偺愱栧壠偱偼側偄偑傫僎僲儉堛椕扴摉堛巘偵偲偭偰傕丆奺庬僨乕僞儀乕僗偺儕儞僋偑娙扨偵妋擣偱偒傞偨傔丆廬棃傛傝傕愊嬌揑偵僨乕僞儀乕僗傪妋擣偄偨偩偗傞傛偆偵側傝丆偑傫僎僲儉堛椕偩偗偱側偔丆堚揱惈庮釃傊偺恊嬤姶傕帩偭偰偄偨偩偗傞偲姶偠傑偡丏摉堾偱偼丆偑傫僎僲儉堛椕嫆揰昦堾偵斾妑偟徢椺悢偼彮側偄偱偡偑丆崱屻偺偑傫僎僲儉堛椕偺峀偑傝偵傕懳墳偱偒傞傛偆摫擖梊掕偱偡丏(2022/5/19)
