JP2017520821A5 - - Google Patents
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- JP2017520821A5 JP2017520821A5 JP2016565058A JP2016565058A JP2017520821A5 JP 2017520821 A5 JP2017520821 A5 JP 2017520821A5 JP 2016565058 A JP2016565058 A JP 2016565058A JP 2016565058 A JP2016565058 A JP 2016565058A JP 2017520821 A5 JP2017520821 A5 JP 2017520821A5
- Authority
- JP
- Japan
- Prior art keywords
- variant
- sample
- allele
- samples
- sequence
- Prior art date
- Legal status (The legal status is an assumption and is not a legal conclusion. Google has not performed a legal analysis and makes no representation as to the accuracy of the status listed.)
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Applications Claiming Priority (3)
| Application Number | Priority Date | Filing Date | Title |
|---|---|---|---|
| US201461991820P | 2014-05-12 | 2014-05-12 | |
| US61/991,820 | 2014-05-12 | ||
| PCT/EP2015/060442 WO2015173222A1 (en) | 2014-05-12 | 2015-05-12 | Rare variant calls in ultra-deep sequencing |
Publications (3)
| Publication Number | Publication Date |
|---|---|
| JP2017520821A JP2017520821A (ja) | 2017-07-27 |
| JP2017520821A5 true JP2017520821A5 (https=) | 2018-06-21 |
| JP6618929B2 JP6618929B2 (ja) | 2019-12-11 |
Family
ID=53264628
Family Applications (1)
| Application Number | Title | Priority Date | Filing Date |
|---|---|---|---|
| JP2016565058A Active JP6618929B2 (ja) | 2014-05-12 | 2015-05-12 | ウルトラディープシークエンシングにおける希少バリアントコール |
Country Status (5)
| Country | Link |
|---|---|
| US (1) | US10216895B2 (https=) |
| EP (1) | EP3143537B1 (https=) |
| JP (1) | JP6618929B2 (https=) |
| CN (1) | CN106462670B (https=) |
| WO (1) | WO2015173222A1 (https=) |
Families Citing this family (37)
| Publication number | Priority date | Publication date | Assignee | Title |
|---|---|---|---|---|
| ES2986436T3 (es) | 2011-04-15 | 2024-11-11 | Univ Johns Hopkins | Sistema de secuenciación segura |
| ES2886507T5 (es) | 2012-10-29 | 2024-11-15 | Univ Johns Hopkins | Prueba de Papanicolaou para cánceres de ovario y de endometrio |
| EP3218523B1 (en) * | 2014-11-14 | 2020-02-12 | Liquid Genomics Inc. | Use of circulating cell-free rna for diagnosis and/or monitoring cancer |
| US10395759B2 (en) | 2015-05-18 | 2019-08-27 | Regeneron Pharmaceuticals, Inc. | Methods and systems for copy number variant detection |
| US11286531B2 (en) | 2015-08-11 | 2022-03-29 | The Johns Hopkins University | Assaying ovarian cyst fluid |
| WO2017127741A1 (en) * | 2016-01-22 | 2017-07-27 | Grail, Inc. | Methods and systems for high fidelity sequencing |
| US12071669B2 (en) | 2016-02-12 | 2024-08-27 | Regeneron Pharmaceuticals, Inc. | Methods and systems for detection of abnormal karyotypes |
| TWI755400B (zh) | 2016-06-01 | 2022-02-21 | 美商寬騰矽公司 | 脈衝命名器及基質命名器、識別核苷酸之方法、校準定序儀器之方法、識別發生核苷酸併入事件之時間的方法、非暫時性電腦可讀儲存媒體、及定序儀器 |
| US10600499B2 (en) | 2016-07-13 | 2020-03-24 | Seven Bridges Genomics Inc. | Systems and methods for reconciling variants in sequence data relative to reference sequence data |
| KR102425673B1 (ko) * | 2016-11-16 | 2022-07-26 | 일루미나, 인코포레이티드 | 시퀀싱 데이터 리드 재정렬 방법 |
| BR112019009949A2 (pt) * | 2016-11-16 | 2019-08-20 | Illumina, Inc. | método implantado por computador para validar chamadas de variante e sistema para validar chamadas de variante |
| WO2018144782A1 (en) * | 2017-02-01 | 2018-08-09 | The Translational Genomics Research Institute | Methods of detecting somatic and germline variants in impure tumors |
| WO2018152267A1 (en) * | 2017-02-14 | 2018-08-23 | Bahram Ghaffarzadeh Kermani | Reliable and secure detection techniques for processing genome data in next generation sequencing (ngs) |
| CN108660252B (zh) * | 2017-04-01 | 2021-11-26 | 北京博尔晟科技发展有限公司 | 一种基于焦磷酸测序的人类免疫缺陷病毒耐药性分析方法 |
| CN111868260B (zh) | 2017-08-07 | 2025-02-21 | 约翰斯霍普金斯大学 | 用于评估和治疗癌症的方法和材料 |
| KR102035615B1 (ko) * | 2017-08-07 | 2019-10-23 | 연세대학교 산학협력단 | 유전자 패널에 기초한 염기서열의 변이 검출방법 및 이를 이용한 염기서열의 변이 검출 디바이스 |
| US20190108311A1 (en) * | 2017-10-06 | 2019-04-11 | Grail, Inc. | Site-specific noise model for targeted sequencing |
| CN110832596B (zh) | 2017-10-16 | 2021-03-26 | 因美纳有限公司 | 基于深度学习的深度卷积神经网络训练方法 |
| US11861491B2 (en) | 2017-10-16 | 2024-01-02 | Illumina, Inc. | Deep learning-based pathogenicity classifier for promoter single nucleotide variants (pSNVs) |
| JP7067896B2 (ja) * | 2017-10-27 | 2022-05-16 | シスメックス株式会社 | 品質評価方法、品質評価装置、プログラム、および記録媒体 |
| JP2021503922A (ja) * | 2017-11-28 | 2021-02-15 | グレイル， インコーポレイテッドＧｒａｉｌ， Ｉｎｃ． | ターゲットシーケンシングのためのモデル |
| CN110870016B (zh) * | 2017-11-30 | 2024-09-06 | 伊鲁米那股份有限公司 | 用于序列变体呼出的验证方法和系统 |
| KR102239487B1 (ko) | 2018-01-08 | 2021-04-14 | 일루미나, 인코포레이티드 | 반도체-기반 검출을 사용한 고-처리율 서열분석 |
| US11378544B2 (en) | 2018-01-08 | 2022-07-05 | Illumina, Inc. | High-throughput sequencing with semiconductor-based detection |
| CA3065939A1 (en) * | 2018-01-15 | 2019-07-18 | Illumina, Inc. | Deep learning-based variant classifier |
| WO2019147904A1 (en) | 2018-01-26 | 2019-08-01 | Quantum-Si Incorporated | Machine learning enabled pulse and base calling for sequencing devices |
| EP4513497A3 (en) * | 2018-02-16 | 2025-05-28 | Illumina, Inc. | Systems and methods for correlated error event mitigation for variant calling |
| SE541799C2 (en) * | 2018-04-11 | 2019-12-17 | David Yudovich | Determination of frequency distribution of nucleotide sequence variants |
| JP2019191952A (ja) * | 2018-04-25 | 2019-10-31 | 特定非営利活動法人Ｎｏｒｔｈ Ｅａｓｔ Ｊａｐａｎ Ｓｔｕｄｙ Ｇｒｏｕｐ | プログラム、情報処理方法および情報処理装置 |
| WO2020035446A1 (en) * | 2018-08-13 | 2020-02-20 | F. Hoffmann-La Roche Ag | Systems and methods for using neural networks for germline and somatic variant calling |
| CN113166806B (zh) * | 2018-10-17 | 2025-01-03 | 奎斯特诊断投资有限责任公司 | 基因组测序选择系统 |
| JP7232433B2 (ja) * | 2018-10-19 | 2023-03-03 | エフ． ホフマン－ラ ロシュ アーゲー | 配列決定のための電場補助型接合部 |
| CN111073961A (zh) * | 2019-12-20 | 2020-04-28 | 苏州赛美科基因科技有限公司 | 一种基因稀有突变的高通量检测方法 |
| EP4103748A4 (en) | 2020-02-14 | 2024-03-13 | The Johns Hopkins University | METHOD AND MATERIALS FOR ASSESSING NUCLEIC ACIDS |
| EP4111455A1 (en) * | 2020-02-28 | 2023-01-04 | Grail, LLC | Systems and methods for calling variants using methylation sequencing data |
| US11361194B2 (en) | 2020-10-27 | 2022-06-14 | Illumina, Inc. | Systems and methods for per-cluster intensity correction and base calling |
| US11538555B1 (en) | 2021-10-06 | 2022-12-27 | Illumina, Inc. | Protein structure-based protein language models |
Family Cites Families (4)
| Publication number | Priority date | Publication date | Assignee | Title |
|---|---|---|---|---|
| WO2014014498A1 (en) | 2012-07-20 | 2014-01-23 | Verinata Health, Inc. | Detecting and classifying copy number variation in a fetal genome |
| US20140066317A1 (en) * | 2012-09-04 | 2014-03-06 | Guardant Health, Inc. | Systems and methods to detect rare mutations and copy number variation |
| US20140143188A1 (en) * | 2012-11-16 | 2014-05-22 | Genformatic, Llc | Method of machine learning, employing bayesian latent class inference: combining multiple genomic feature detection algorithms to produce an integrated genomic feature set with specificity, sensitivity and accuracy |
| US9218450B2 (en) * | 2012-11-29 | 2015-12-22 | Roche Molecular Systems, Inc. | Accurate and fast mapping of reads to genome |
-
2015
- 2015-05-12 CN CN201580024749.2A patent/CN106462670B/zh active Active
- 2015-05-12 WO PCT/EP2015/060442 patent/WO2015173222A1/en not_active Ceased
- 2015-05-12 EP EP15724196.9A patent/EP3143537B1/en active Active
- 2015-05-12 JP JP2016565058A patent/JP6618929B2/ja active Active
- 2015-05-12 US US14/709,958 patent/US10216895B2/en active Active
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