JP2017520821A5 - - Google Patents
Download PDFInfo
- Publication number
- 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.)
- Granted
Links
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 (enExample) | 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 (enExample) |
| EP (1) | EP3143537B1 (enExample) |
| JP (1) | JP6618929B2 (enExample) |
| CN (1) | CN106462670B (enExample) |
| WO (1) | WO2015173222A1 (enExample) |
Families Citing this family (37)
| Publication number | Priority date | Publication date | Assignee | Title |
|---|---|---|---|---|
| AU2012242847B2 (en) | 2011-04-15 | 2017-01-19 | The Johns Hopkins University | Safe sequencing system |
| ES2701742T3 (es) | 2012-10-29 | 2019-02-25 | Univ Johns Hopkins | Prueba de Papanicolaou para cánceres de ovario y de endometrio |
| WO2016077709A1 (en) * | 2014-11-14 | 2016-05-19 | 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 |
| WO2017027653A1 (en) | 2015-08-11 | 2017-02-16 | The Johns Hopkins University | Assaying ovarian cyst fluid |
| CN108603229A (zh) * | 2016-01-22 | 2018-09-28 | 格瑞尔公司 | 用于高保真测序的方法和系统 |
| EP3414691A1 (en) | 2016-02-12 | 2018-12-19 | Regeneron Pharmaceuticals, Inc. | Methods and systems for detection of abnormal karyotypes |
| EP4009330A1 (en) | 2016-06-01 | 2022-06-08 | Quantum-si Incorporated | Pulse caller and base caller |
| 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 |
| BR112019009830A2 (pt) * | 2016-11-16 | 2019-08-13 | Illumina, Inc. | métodos para realinhamento de leitura de dados de sequenciamento |
| WO2018093780A1 (en) * | 2016-11-16 | 2018-05-24 | Illumina, Inc. | Validation methods and systems for sequence variant calls |
| US11978535B2 (en) * | 2017-02-01 | 2024-05-07 | 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 |
| KR102035615B1 (ko) * | 2017-08-07 | 2019-10-23 | 연세대학교 산학협력단 | 유전자 패널에 기초한 염기서열의 변이 검출방법 및 이를 이용한 염기서열의 변이 검출 디바이스 |
| CN120400338A (zh) | 2017-08-07 | 2025-08-01 | 约翰斯霍普金斯大学 | 用于评估和治疗癌症的方法和材料 |
| WO2019071219A1 (en) * | 2017-10-06 | 2019-04-11 | Grail, Inc. | SPECIFIC SITE NOISE MODEL FOR TARGETED SEQUENCING |
| NZ759818A (en) | 2017-10-16 | 2022-04-29 | Illumina Inc | Semi-supervised learning for training an ensemble of deep convolutional neural networks |
| 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 |
| IL271235B2 (en) | 2017-11-30 | 2024-12-01 | Illumina Inc | Validation methods and systems for detecting sequence variants |
| WO2019136376A1 (en) | 2018-01-08 | 2019-07-11 | Illumina, Inc. | High-throughput sequencing with semiconductor-based detection |
| CA3279137A1 (en) | 2018-01-08 | 2025-10-30 | Illumina, Inc. | Systems and devices for high-throughput sequencing with semiconductor-based detection |
| EP3619653B1 (en) | 2018-01-15 | 2021-05-19 | Illumina Inc. | Deep learning-based variant classifier |
| JP2021511829A (ja) | 2018-01-26 | 2021-05-13 | クアンタム−エスアイ インコーポレイテッドＱｕａｎｔｕｍ−Ｓｉ Ｉｎｃｏｒｐｏｒａｔｅｄ | シークエンシングデバイスに関する機械学習可能なパルス決定および塩基決定 |
| CN120015114A (zh) * | 2018-02-16 | 2025-05-16 | 伊鲁米那股份有限公司 | 用于变体识别的相关错误事件缓解的系统和方法 |
| 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 |
| CN113168886B (zh) * | 2018-08-13 | 2025-01-21 | 豪夫迈·罗氏有限公司 | 用于使用神经网络进行种系和体细胞变体调用的系统和方法 |
| WO2020081648A1 (en) | 2018-10-17 | 2020-04-23 | Quest Diagnostics Investments Llc | Genomic sequencing selection system |
| EP3867408A1 (en) * | 2018-10-19 | 2021-08-25 | F. Hoffmann-La Roche AG | Electric field-assisted junctions for sequencing |
| 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 |
| IL295297A (en) | 2020-02-14 | 2022-10-01 | Univ Johns Hopkins | Methods and materials for assessing nucleic acids |
| AU2021227920A1 (en) * | 2020-02-28 | 2022-09-08 | 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 |
|---|---|---|---|---|
| WO2014014497A1 (en) * | 2012-07-20 | 2014-01-23 | Verinata Health, Inc. | Detecting and classifying copy number variation in a cancer 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 EP EP15724196.9A patent/EP3143537B1/en active Active
- 2015-05-12 WO PCT/EP2015/060442 patent/WO2015173222A1/en not_active Ceased
- 2015-05-12 JP JP2016565058A patent/JP6618929B2/ja active Active
- 2015-05-12 CN CN201580024749.2A patent/CN106462670B/zh active Active
- 2015-05-12 US US14/709,958 patent/US10216895B2/en active Active
Similar Documents
| Publication | Publication Date | Title |
|---|---|---|
| JP6618929B2 (ja) | 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 | |
| AU2023251452B2 (en) | Validation methods and systems for sequence variant calls | |
| WO2020154682A2 (en) | Detecting cancer, cancer tissue of origin, and/or a cancer cell type | |
| CN107480470B (zh) | 基于贝叶斯与泊松分布检验的已知变异检出方法和装置 | |
| JP2014502155A5 (enExample) | ||
| Zhang et al. | MaLAdapt reveals novel targets of adaptive introgression from Neanderthals and Denisovans in worldwide human populations | |
| US20180312928A1 (en) | Method and system for selecting customized drug using genomic nucleotide sequence variation information and survival information of cancer patient | |
| US12486541B2 (en) | Chromosomal assessment to differentiate histiocytic malignancy from lymphoma and hemangiosarcoma in dogs | |
| WO2018060365A1 (en) | Genomic variant ranking system for clinical trial matching | |
| CA3182993A1 (en) | Detection and classification of human papillomavirus associated cancers | |
| KR20240073026A (ko) | 노이즈 영역 필터링을 사용한 메틸화 단편 확률론적 노이즈 모델 | |
| Bilinski et al. | Diversity and evolution of centromere repeats in the maize genome | |
| Kuo et al. | Illuminating the dark side of the human transcriptome with TAMA Iso-Seq analysis | |
| JP2016184185A5 (enExample) | ||
| JP2006079334A (ja) | 遺伝子情報の表示方法及び表示装置 | |
| CN114974416B (zh) | 一种检测相邻多核苷酸变异的方法及装置 | |
| WO2019158705A1 (en) | Patient classification and prognostic method | |
| CN109243529A (zh) | 基于局部敏感哈希的水平转移基因识别方法 | |
| Jarosz et al. | Kit-Specific and Other Non-Biological-Based Biases in Germline Whole-Exome Analysis at the Gene Level | |
| Bharadwaj | Characterizing Alterations to Chromatin Accessibility in Crohn’s Disease Patients by Identifying Potential Causal Variants in Regulatory Regions Through a QTL Approach | |
| CN118460706B (zh) | 检测线粒体基因的方法、设备、介质和程序产品 | |
| EP4297037A1 (en) | Device for determining an indicator of presence of hrd in a genome of a subject | |
| CA3080170C (en) | Models for targeted sequencing | |
| JP2024544597A5 (enExample) | ||
| HK40012524B (en) | Validation methods and systems for sequence variant calls |