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 PDFInfo
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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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- G16B40/00—ICT specially adapted for biostatistics; ICT specially adapted for bioinformatics-related machine learning or data mining, e.g. knowledge discovery or pattern finding
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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.
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 |
Family
ID=64396671
Family Applications (1)
Application Number | Title | Priority Date | Filing Date |
---|---|---|---|
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 |
Country Status (5)
Country | Link |
---|---|
US (1) | US20210174897A1 (ko) |
JP (1) | JP6980907B2 (ko) |
KR (1) | KR102145417B1 (ko) |
CN (1) | CN110870017B (ko) |
WO (1) | WO2018216905A2 (ko) |
Citations (4)
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)
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 |
-
2017
- 2017-05-24 KR KR1020170064387A patent/KR102145417B1/ko active IP Right Grant
-
2018
- 2018-04-17 WO PCT/KR2018/004405 patent/WO2018216905A2/ko active Application Filing
- 2018-04-17 US US16/616,773 patent/US20210174897A1/en not_active Abandoned
- 2018-04-17 JP JP2020515641A patent/JP6980907B2/ja active Active
- 2018-04-17 CN CN201880034935.8A patent/CN110870017B/zh active Active
Patent Citations (4)
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)
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
Publication number | Publication date |
---|---|
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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