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떊媛쒕컻湲곗닠

떊媛쒕컻湲곗닠 엯땲떎.

궛쟾吏꾨떒

[鍮꾩묠뒿쟻 궛쟾吏꾨떒]

鍮꾩묠뒿쟻 궛쟾 湲고삎븘 寃궗(NIPT;non-invasive prenatal testing)뒗 엫떊 10二 씠썑遺꽣 엫떊遺쓽 삁븸뿉 議댁옱븯뒗 깭븘쓽 DNA瑜 李⑥꽭뿼湲곗꽌뿴遺꾩꽍踰(NGS)쓣 씠슜븯뿬 깭븘쓽 뿼깋泥 씠긽쓣 븞쟾븯怨 젙솗븯寃 꽑蹂꾪븯뒗 궛쟾 寃궗 엯땲떎. 씠뒗 궛紐⑤뱾쓽 룊洹 異쒖궛 뿰졊씠 젏李 넂븘 吏먯뿉 뵲씪 怨좎쐞뿕 궛紐④ 뒛뼱굹硫 愿떖씠 湲됯꺽븯寃 뒛뼱굹怨 엳뒿땲떎.
二쇱떇쉶궗 留덊겕뿬痢좊뒗 엫떊 7二 씠썑遺꽣 寃궗媛 媛뒫븯硫, picodroplet digital PCR踰뺤쓣 씠슜븯뿬 NGS濡 吏꾪뻾릺뒗 NIPT蹂대떎 Haplotype쓽 蹂듭썝怨쇱젙씠 븘슂 뾾뼱 蹂대떎 젙솗븯怨 떊냽븯硫 슚쑉쟻엯땲떎.
[愿젴끉臾; Sci Rep. 2018 DOI:혻10.1038/s41598-018-21236-w]

[ 愿젴끉臾; Genetics Med. (IF 8.82) ,Scientific Rep. (IF 4.37) 쇅 6嫄]

쑀쟾吏꾨떒

[씤怨듭뒫 쑀쟾遺꾩꽍 냼봽듃썾뼱]

李⑥꽭 뿼湲곗꽌뿴 遺꾩꽍 (NGS; Next generation sequencing) 愿젴맂 湲곗닠쓽 諛쒖쟾怨 洹몄뿉 뵲瑜 遺꾩꽍 鍮꾩슜쓽 븯씫뿉 뵲씪 怨좊퉬슜쓽 NGS 뜲씠꽣뒗 쑀쟾泥 湲곕컲 뿰援ъ뿉 以묒슂븳 닔떒쑝濡 옄由 옟븯怨, 吏덈퀝쓽 吏꾨떒 諛 쑀쟾옄 移섎즺젣쓽 媛뒫 뿬遺瑜 뙋떒븯뒗 諛⑸쾿쑝濡 씪諛 以묒쓣 쐞빐 꽌鍮꾩뒪媛 솗 릺怨 엳뒿땲떎.
二쇱떇쉶궗 留덊겕뿬痢좊뒗 諛⑸븳 遺꾨웾쓽 NGS寃곌낵 뜲씠꽣瑜 떊냽븯寃 遺꾩꽍븯怨, 愿젴 쓽빟꽌쟻 諛 꽭怨꾩쟻쑝濡 벑濡앸릺뒗 쑀쟾吏덊솚쓣 쑀諛쒗븯뒗 쑀쟾옄뿉 빐꽌 떎떆媛꾩쑝濡 紐⑤땲꽣留 븯뿬 젙蹂대 젣怨듯빀땲떎.
쑀쟾吏덊솚 遺꾩꽍뒫젰: 288 諛, 쓽븰꽌쟻 遺꾩꽍뒫젰: 360,000 諛, 옣 옄猷 옱遺꾩꽍 삤瑜: 0.0001 %
[愿젴끉臾; Sci Rep. 2021 11, Article혻number:혻19476혻(2021), 愿젴꽌鍮꾩뒪: https://3billion.io/]

[ 愿젴끉臾; Scientific Rep. (IF 4.37) 쇅 12嫄]