JP2022534634A5 - - Google Patents

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Publication number
JP2022534634A5
JP2022534634A5 JP2021517942A JP2021517942A JP2022534634A5 JP 2022534634 A5 JP2022534634 A5 JP 2022534634A5 JP 2021517942 A JP2021517942 A JP 2021517942A JP 2021517942 A JP2021517942 A JP 2021517942A JP 2022534634 A5 JP2022534634 A5 JP 2022534634A5
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JP
Japan
Prior art keywords
fetal fraction
test sample
sequence
coverage
fetal
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JP2021517942A
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English (en)
Japanese (ja)
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JP2022534634A (ja
JP7506060B2 (ja
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Priority claimed from PCT/US2020/035787 external-priority patent/WO2020247411A1/en
Publication of JP2022534634A publication Critical patent/JP2022534634A/ja
Publication of JP2022534634A5 publication Critical patent/JP2022534634A5/ja
Application granted granted Critical
Publication of JP7506060B2 publication Critical patent/JP7506060B2/ja
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JP2021517942A 2019-06-03 2020-06-02 検出限界ベースの品質管理メトリック Active JP7506060B2 (ja)

Applications Claiming Priority (3)

Application Number Priority Date Filing Date Title
US201962856651P 2019-06-03 2019-06-03
US62/856,651 2019-06-03
PCT/US2020/035787 WO2020247411A1 (en) 2019-06-03 2020-06-02 Limit of detection based quality control metric

Publications (3)

Publication Number Publication Date
JP2022534634A JP2022534634A (ja) 2022-08-03
JP2022534634A5 true JP2022534634A5 (https=) 2022-10-26
JP7506060B2 JP7506060B2 (ja) 2024-06-25

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ID=71842782

Family Applications (1)

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JP2021517942A Active JP7506060B2 (ja) 2019-06-03 2020-06-02 検出限界ベースの品質管理メトリック

Country Status (8)

Country Link
US (1) US12260935B2 (https=)
EP (1) EP3977459A1 (https=)
JP (1) JP7506060B2 (https=)
KR (1) KR20220013349A (https=)
CN (1) CN112823391B (https=)
AU (1) AU2020286376A1 (https=)
CA (1) CA3115513A1 (https=)
WO (1) WO2020247411A1 (https=)

Families Citing this family (4)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
JP2023552015A (ja) * 2020-12-02 2023-12-14 イルミナ ソフトウェア, インコーポレイテッド 遺伝子変異を検出するためのシステム及び方法
CN113643755B (zh) * 2021-08-11 2023-10-13 上海小海龟科技有限公司 一种nipt试剂盒阳性率校正方法、装置、计算机设备和介质
CN117095745B (zh) * 2022-12-28 2025-12-12 安诺优达基因科技(北京)有限公司 用于检测孕妇血浆游离dna中胎儿非整倍体和拷贝数变异的方法和装置及应用
SK289398B6 (sk) * 2023-05-25 2026-01-14 Medirex Group Academy N.O. Metóda detekcie vzoriek s nedostatočným množstvom fragmentov fetálnej a cirkulujúcej nádorovej DNA na neinvazívne genetické testovanie

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CA2615323A1 (en) 2005-06-06 2007-12-21 454 Life Sciences Corporation Paired end sequencing
US9163229B2 (en) 2006-10-10 2015-10-20 Trovagene, Inc. Compositions, methods and kits for isolating nucleic acids from body fluids using anion exchange media
US9029103B2 (en) 2010-08-27 2015-05-12 Illumina Cambridge Limited Methods for sequencing polynucleotides
CN204440396U (zh) 2012-04-12 2015-07-01 维里纳塔健康公司 用于确定胎儿分数的试剂盒
WO2014151117A1 (en) * 2013-03-15 2014-09-25 The Board Of Trustees Of The Leland Stanford Junior University Identification and use of circulating nucleic acid tumor markers
KR102665592B1 (ko) 2013-05-24 2024-05-21 시쿼넘, 인코포레이티드 유전적 변이의 비침습 평가를 위한 방법 및 프로세스
ES3037160T3 (en) 2013-06-21 2025-09-29 Sequenom Inc Methods and processes for non-invasive assessment of genetic variations
CN105830077B (zh) * 2013-10-21 2019-07-09 维里纳塔健康公司 用于在确定拷贝数变异中改善检测的灵敏度的方法
CA2945962C (en) 2014-04-21 2023-08-29 Natera, Inc. Detecting mutations and ploidy in chromosomal segments
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AU2015367290A1 (en) 2014-12-16 2017-05-11 Garvan Institute Of Medical Research Sequencing controls
HUE058263T2 (hu) 2015-02-10 2022-07-28 Univ Hong Kong Chinese Mutációk detektálása rákszûrési és magzatelemzési célból
WO2017093561A1 (en) 2015-12-04 2017-06-08 Genesupport Sa Method for non-invasive prenatal testing
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