WO2018216905A3 - 무세포 핵산으로부터 수득된 서열 분석 데이터에 대한 배경 대립인자의 빈도 분포를 생성하는 방법 및 이를 이용하여 무세포 핵산으로부터 변이를 검출하는 방법 - Google Patents

무세포 핵산으로부터 수득된 서열 분석 데이터에 대한 배경 대립인자의 빈도 분포를 생성하는 방법 및 이를 이용하여 무세포 핵산으로부터 변이를 검출하는 방법 Download PDF

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WO2018216905A3
WO2018216905A3 PCT/KR2018/004405 KR2018004405W WO2018216905A3 WO 2018216905 A3 WO2018216905 A3 WO 2018216905A3 KR 2018004405 W KR2018004405 W KR 2018004405W WO 2018216905 A3 WO2018216905 A3 WO 2018216905A3
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nucleic acid
acellular nucleic
data obtained
frequency distribution
sequencing data
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PCT/KR2018/004405
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English (en)
French (fr)
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WO2018216905A2 (ko
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박웅양
박동현
손대순
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사회복지법인 삼성생명공익재단
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Priority to US16/616,773 priority Critical patent/US20210174897A1/en
Priority to JP2020515641A priority patent/JP6980907B2/ja
Priority to CN201880034935.8A priority patent/CN110870017B/zh
Publication of WO2018216905A2 publication Critical patent/WO2018216905A2/ko
Publication of WO2018216905A3 publication Critical patent/WO2018216905A3/ko

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    • G16B25/00—ICT specially adapted for hybridisation; ICT specially adapted for gene or protein expression
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Abstract

무세포 핵산으로부터 수득된 서열 분석 데이터에 대한 배경 대립인자의 빈도 분포를 생성하는 방법, 상기 방법에 의한 배경 대립인자의 빈도 분포 매트릭스 및 이를 이용하여 무세포 핵산으로부터 변이를 검출하는 방법을 제공한다. 이에 따르면, 생식세포 변이를 제거하여 위하여, 피검 개체 자신의 세포로부터 분리된 핵산으로부터 수득된 서열 분석 데이터를 이용하여, 무세포 핵산으로부터 수득된 서열 분석 데이터에 대한 배경 대립인자의 빈도 분포를 생성할 수 있으므로, 비용 및 시간을 절약할 수 있는 이점이 있다.
PCT/KR2018/004405 2017-05-24 2018-04-17 무세포 핵산으로부터 수득된 서열 분석 데이터에 대한 배경 대립인자의 빈도 분포를 생성하는 방법 및 이를 이용하여 무세포 핵산으로부터 변이를 검출하는 방법 WO2018216905A2 (ko)

Priority Applications (3)

Application Number Priority Date Filing Date Title
US16/616,773 US20210174897A1 (en) 2017-05-24 2018-04-17 Method for generating frequency distribution of background allele in sequencing data obtained from acellular nucleic acid, and method for detecting mutation from acellular nucleic acid using same
JP2020515641A JP6980907B2 (ja) 2017-05-24 2018-04-17 無細胞核酸から得られた配列分析データに係わる背景対立因子の頻度分布を生成する方法、及びそれを利用して無細胞核酸から変異を検出する方法
CN201880034935.8A CN110870017B (zh) 2017-05-24 2018-04-17 从无细胞核酸生成背景等位基因频率分布及检测突变的方法

Applications Claiming Priority (2)

Application Number Priority Date Filing Date Title
KR1020170064387A KR102145417B1 (ko) 2017-05-24 2017-05-24 무세포 핵산으로부터 수득된 서열 분석 데이터에 대한 배경 대립인자의 빈도 분포를 생성하는 방법 및 이를 이용하여 무세포 핵산으로부터 변이를 검출하는 방법
KR10-2017-0064387 2017-05-24

Publications (2)

Publication Number Publication Date
WO2018216905A2 WO2018216905A2 (ko) 2018-11-29
WO2018216905A3 true WO2018216905A3 (ko) 2019-01-03

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PCT/KR2018/004405 WO2018216905A2 (ko) 2017-05-24 2018-04-17 무세포 핵산으로부터 수득된 서열 분석 데이터에 대한 배경 대립인자의 빈도 분포를 생성하는 방법 및 이를 이용하여 무세포 핵산으로부터 변이를 검출하는 방법

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Country Link
US (1) US20210174897A1 (ko)
JP (1) JP6980907B2 (ko)
KR (1) KR102145417B1 (ko)
CN (1) CN110870017B (ko)
WO (1) WO2018216905A2 (ko)

Citations (4)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
KR20140091650A (ko) * 2010-11-30 2014-07-22 더 차이니즈 유니버시티 오브 홍콩 암과 연관된 유전적 또는 분자적 이상들의 검출
US20150347678A1 (en) * 2013-08-21 2015-12-03 Seven Bridges Genomics Inc. Methods and systems for detecting sequence variants
US20170039318A1 (en) * 2011-04-12 2017-02-09 Verinata Health, Inc. Resolving genome fractions using polymorphism counts
US9598731B2 (en) * 2012-09-04 2017-03-21 Guardant Health, Inc. Systems and methods to detect rare mutations and copy number variation

Family Cites Families (8)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
JP5854464B2 (ja) * 2009-10-16 2016-02-09 国立研究開発法人理化学研究所 メチル化ｄｎａ結合ペプチド
ES2720282T3 (es) * 2009-11-05 2019-07-19 Univ Hong Kong Chinese Análisis genómico fetal a partir de una muestra biológica materna
US10424394B2 (en) * 2011-10-06 2019-09-24 Sequenom, Inc. Methods and processes for non-invasive assessment of genetic variations
US11261494B2 (en) * 2012-06-21 2022-03-01 The Chinese University Of Hong Kong Method of measuring a fractional concentration of tumor DNA
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
EP3134541B1 (en) * 2014-04-21 2020-08-19 Natera, Inc. Detecting copy number variations (cnv) of chromosomal segments in cancer
JP2019509282A (ja) * 2016-02-29 2019-04-04 ファウンデーション・メディシン・インコーポレイテッド 癌の治療方法
SG11201809913PA (en) * 2016-05-16 2018-12-28 Nanostring Technologies Inc Methods for detecting target nucleic acids in a sample

Patent Citations (4)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
KR20140091650A (ko) * 2010-11-30 2014-07-22 더 차이니즈 유니버시티 오브 홍콩 암과 연관된 유전적 또는 분자적 이상들의 검출
US20170039318A1 (en) * 2011-04-12 2017-02-09 Verinata Health, Inc. Resolving genome fractions using polymorphism counts
US9598731B2 (en) * 2012-09-04 2017-03-21 Guardant Health, Inc. Systems and methods to detect rare mutations and copy number variation
US20150347678A1 (en) * 2013-08-21 2015-12-03 Seven Bridges Genomics Inc. Methods and systems for detecting sequence variants

Non-Patent Citations (1)

* Cited by examiner, † Cited by third party
Title
KADAM, S. K. ET AL.: "Quantitative Measurement of Cell -free Plasma DNA and Applications for Detecting Tumor Genetic Variation and Promoter Methylation in a Clinical Setting", THE JOURNAL OF MOLECULAR DIAGNOSTICS, vol. 14, no. 4, 2012, pages 346 - 356, XP055457473, DOI: 10.1016/j.jmoldx.2012.03.001 *

Also Published As

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KR20180128801A (ko) 2018-12-04
KR102145417B1 (ko) 2020-08-19
JP6980907B2 (ja) 2021-12-15
US20210174897A1 (en) 2021-06-10
WO2018216905A2 (ko) 2018-11-29
CN110870017A (zh) 2020-03-06
CN110870017B (zh) 2023-09-08
JP2020520679A (ja) 2020-07-16

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