JP2008263974A5 - - Google Patents
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- JP2008263974A5 JP2008263974A5 JP2008082727A JP2008082727A JP2008263974A5 JP 2008263974 A5 JP2008263974 A5 JP 2008263974A5 JP 2008082727 A JP2008082727 A JP 2008082727A JP 2008082727 A JP2008082727 A JP 2008082727A JP 2008263974 A5 JP2008263974 A5 JP 2008263974A5
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- JP
- Japan
- Prior art keywords
- genomic region
- allele
- snp
- snp site
- asymmetry
- Prior art date
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Claims (8)
- SNP部位を含むゲノム領域における被験体のジェノタイプを判定する方法であって、該被験体由来の該ゲノム領域を含むDNA含有試料を鋳型として、該SNP部位のタイピングをインベーダ法にて実施する工程を含み、かつ該工程において蛍光をリアルタイムで測定することを特徴とし、蛍光強度が飽和に達するより前の時点における各アレルに対応する蛍光強度の比を用いて、両アレルのコピー数の比を判定する、方法。
- SNP部位を含むゲノム領域がCNV領域内にある、請求項1記載の方法。
- アレル非対称性を伴う重複を検出するためのものである、請求項1または2記載の方法。
- インベーダ工程の前にSNP部位を含むゲノム領域を増幅する工程をさらに含む、請求項1〜3のいずれかに記載の方法。
- ゲノム領域が複数のSNP部位を含み、増幅工程が該複数のSNP部位を含む複数の領域を同時に増幅するものである、請求項4記載の方法。
- 定量PCRを用いて得られる両アレルの総コピー数に基づいて、各アレルのコピー数を判定する、請求項4または5記載の方法。
- 定量PCRがTaqMan法により行われることを特徴とする、請求項5記載の方法。
- アレル非対称性を伴う重複もしくは欠失が検出されたSNP部位が連続して、または連続しなくとも複数含まれる範囲を同定することによりCNVのブレークポイントを特定することを含む、請求項5〜7のいずれかに記載の方法。
Priority Applications (1)
Application Number | Priority Date | Filing Date | Title |
---|---|---|---|
JP2008082727A JP5262230B2 (ja) | 2007-03-28 | 2008-03-27 | 新規多型検出法 |
Applications Claiming Priority (3)
Application Number | Priority Date | Filing Date | Title |
---|---|---|---|
JP2007086067 | 2007-03-28 | ||
JP2007086067 | 2007-03-28 | ||
JP2008082727A JP5262230B2 (ja) | 2007-03-28 | 2008-03-27 | 新規多型検出法 |
Publications (3)
Publication Number | Publication Date |
---|---|
JP2008263974A JP2008263974A (ja) | 2008-11-06 |
JP2008263974A5 true JP2008263974A5 (ja) | 2011-03-24 |
JP5262230B2 JP5262230B2 (ja) | 2013-08-14 |
Family
ID=40027886
Family Applications (1)
Application Number | Title | Priority Date | Filing Date |
---|---|---|---|
JP2008082727A Expired - Fee Related JP5262230B2 (ja) | 2007-03-28 | 2008-03-27 | 新規多型検出法 |
Country Status (2)
Country | Link |
---|---|
US (1) | US7888024B2 (ja) |
JP (1) | JP5262230B2 (ja) |
Families Citing this family (28)
Publication number | Priority date | Publication date | Assignee | Title |
---|---|---|---|---|
US9424392B2 (en) | 2005-11-26 | 2016-08-23 | Natera, Inc. | System and method for cleaning noisy genetic data from target individuals using genetic data from genetically related individuals |
WO2009054474A1 (ja) * | 2007-10-26 | 2009-04-30 | Toppan Printing Co., Ltd. | アレル判定装置及び方法、ならびに、コンピュータプログラム |
EP2550369B8 (en) * | 2010-03-24 | 2016-10-19 | Parker Proteomics, LLC | Methods for conducting genetic analysis using protein polymorphisms |
EP2569452B1 (en) * | 2010-05-14 | 2020-03-25 | Life Technologies Corporation | Karyotyping assay |
US20190010543A1 (en) | 2010-05-18 | 2019-01-10 | Natera, Inc. | Methods for simultaneous amplification of target loci |
US11939634B2 (en) | 2010-05-18 | 2024-03-26 | Natera, Inc. | Methods for simultaneous amplification of target loci |
US10316362B2 (en) | 2010-05-18 | 2019-06-11 | Natera, Inc. | Methods for simultaneous amplification of target loci |
US11408031B2 (en) | 2010-05-18 | 2022-08-09 | Natera, Inc. | Methods for non-invasive prenatal paternity testing |
US11322224B2 (en) | 2010-05-18 | 2022-05-03 | Natera, Inc. | Methods for non-invasive prenatal ploidy calling |
US11332785B2 (en) | 2010-05-18 | 2022-05-17 | Natera, Inc. | Methods for non-invasive prenatal ploidy calling |
US11332793B2 (en) | 2010-05-18 | 2022-05-17 | Natera, Inc. | Methods for simultaneous amplification of target loci |
EP2854057B1 (en) | 2010-05-18 | 2018-03-07 | Natera, Inc. | Methods for non-invasive pre-natal ploidy calling |
US11326208B2 (en) | 2010-05-18 | 2022-05-10 | Natera, Inc. | Methods for nested PCR amplification of cell-free DNA |
US11339429B2 (en) | 2010-05-18 | 2022-05-24 | Natera, Inc. | Methods for non-invasive prenatal ploidy calling |
US9677118B2 (en) | 2014-04-21 | 2017-06-13 | Natera, Inc. | Methods for simultaneous amplification of target loci |
CN102108406B (zh) * | 2010-12-20 | 2014-05-21 | 北京贝瑞和康生物技术有限公司 | 检测胚胎染色体拷贝数的试剂盒、装置和方法 |
JP2015073506A (ja) * | 2013-10-10 | 2015-04-20 | 凸版印刷株式会社 | 遺伝子多型の判定方法 |
CN113774132A (zh) | 2014-04-21 | 2021-12-10 | 纳特拉公司 | 检测染色体片段中的突变和倍性 |
US11094398B2 (en) | 2014-10-10 | 2021-08-17 | Life Technologies Corporation | Methods for calculating corrected amplicon coverages |
WO2016183106A1 (en) | 2015-05-11 | 2016-11-17 | Natera, Inc. | Methods and compositions for determining ploidy |
US20200265920A1 (en) * | 2016-01-07 | 2020-08-20 | The Children's Mercy Hospital | A system for determining diplotypes |
US11485996B2 (en) | 2016-10-04 | 2022-11-01 | Natera, Inc. | Methods for characterizing copy number variation using proximity-litigation sequencing |
US10011870B2 (en) | 2016-12-07 | 2018-07-03 | Natera, Inc. | Compositions and methods for identifying nucleic acid molecules |
US11993811B2 (en) | 2017-01-31 | 2024-05-28 | Myriad Women's Health, Inc. | Systems and methods for identifying and quantifying gene copy number variations |
US11251595B2 (en) | 2018-07-03 | 2022-02-15 | Erico International Corporation | Lightning protection system and method |
US11525159B2 (en) | 2018-07-03 | 2022-12-13 | Natera, Inc. | Methods for detection of donor-derived cell-free DNA |
CN113755578A (zh) * | 2021-09-09 | 2021-12-07 | 上海普然生物科技有限公司 | 一种用于昂丹司琼和托烷司琼代谢标志物的检测试剂盒及其检测方法和应用 |
CN115273984B (zh) * | 2022-09-30 | 2022-11-29 | 北京诺禾致源科技股份有限公司 | 鉴定基因组串联重复区域的方法及装置 |
-
2008
- 2008-03-27 JP JP2008082727A patent/JP5262230B2/ja not_active Expired - Fee Related
- 2008-03-28 US US12/058,318 patent/US7888024B2/en not_active Expired - Fee Related
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