JP2017528140A5 - - Google Patents
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- JP2017528140A5 JP2017528140A5 JP2017514334A JP2017514334A JP2017528140A5 JP 2017528140 A5 JP2017528140 A5 JP 2017528140A5 JP 2017514334 A JP2017514334 A JP 2017514334A JP 2017514334 A JP2017514334 A JP 2017514334A JP 2017528140 A5 JP2017528140 A5 JP 2017528140A5
- Authority
- JP
- Japan
- Prior art keywords
- allele
- lead
- locus
- sequence
- designated
- 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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- 108700028369 Alleles Proteins 0.000 claims 40
- 238000000034 method Methods 0.000 claims 18
- 208000003028 Stuttering Diseases 0.000 claims 11
- 238000010899 nucleation Methods 0.000 claims 6
- 108091092878 Microsatellite Proteins 0.000 claims 5
- 230000003252 repetitive effect Effects 0.000 claims 5
- 239000002773 nucleotide Substances 0.000 claims 2
- 125000003729 nucleotide group Chemical group 0.000 claims 2
- 108091028043 Nucleic acid sequence Proteins 0.000 claims 1
- 238000012163 sequencing technique Methods 0.000 claims 1
Applications Claiming Priority (3)
| Application Number | Priority Date | Filing Date | Title |
|---|---|---|---|
| US201462052189P | 2014-09-18 | 2014-09-18 | |
| US62/052,189 | 2014-09-18 | ||
| PCT/US2015/050129 WO2016044233A1 (en) | 2014-09-18 | 2015-09-15 | Methods and systems for analyzing nucleic acid sequencing data |
Publications (3)
| Publication Number | Publication Date |
|---|---|
| JP2017528140A JP2017528140A (ja) | 2017-09-28 |
| JP2017528140A5 true JP2017528140A5 (https=) | 2018-11-22 |
| JP6802154B2 JP6802154B2 (ja) | 2020-12-16 |
Family
ID=55525984
Family Applications (1)
| Application Number | Title | Priority Date | Filing Date |
|---|---|---|---|
| JP2017514334A Active JP6802154B2 (ja) | 2014-09-18 | 2015-09-15 | 核酸シーケンシングデータを解析するための方法およびシステム |
Country Status (9)
| Country | Link |
|---|---|
| US (2) | US20160085910A1 (https=) |
| EP (1) | EP3194627B1 (https=) |
| JP (1) | JP6802154B2 (https=) |
| KR (1) | KR102538753B1 (https=) |
| CN (1) | CN107002121B (https=) |
| AU (1) | AU2015318017B2 (https=) |
| CA (1) | CA2960840A1 (https=) |
| SA (1) | SA517381091B1 (https=) |
| WO (1) | WO2016044233A1 (https=) |
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| RS60736B1 (sr) | 2013-12-03 | 2020-09-30 | Illumina Inc | Postupci i sistemi za analizu podataka sa slika |
| 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 |
| US11001880B2 (en) | 2016-09-30 | 2021-05-11 | The Mitre Corporation | Development of SNP islands and application of SNP islands in genomic analysis |
| JP7113838B2 (ja) | 2016-11-16 | 2022-08-05 | イルミナ インコーポレイテッド | 配列バリアントコールのための有効化方法およびシステム |
| US20200202982A1 (en) * | 2017-05-17 | 2020-06-25 | Syracuse University | Methods and systems for assessing the presence of allelic dropout using machine learning algorithms |
| CN111344794B (zh) * | 2017-07-20 | 2024-04-23 | 华为技术有限公司 | 用于鉴定单体型的装置和方法 |
| WO2019079182A1 (en) | 2017-10-16 | 2019-04-25 | Illumina, Inc. | SEMI-SUPERVISED APPRENTICESHIP FOR THE LEARNING OF A SET OF NEURONAL NETWORKS WITH DEEP CONVOLUTION |
| SG11201912745WA (en) | 2017-10-16 | 2020-01-30 | Illumina Inc | Deep learning-based splice site classification |
| US11861491B2 (en) | 2017-10-16 | 2024-01-02 | Illumina, Inc. | Deep learning-based pathogenicity classifier for promoter single nucleotide variants (pSNVs) |
| IL283427B2 (en) | 2018-01-15 | 2023-10-01 | Illumina Inc | Identifying variants using Empiric ranking of variants |
| US20190318806A1 (en) | 2018-04-12 | 2019-10-17 | Illumina, Inc. | Variant Classifier Based on Deep Neural Networks |
| NL2020861B1 (en) | 2018-04-12 | 2019-10-22 | Illumina Inc | Variant classifier based on deep neural networks |
| CN108647492B (zh) * | 2018-05-02 | 2019-04-16 | 中国人民解放军军事科学院军事医学研究院 | 一种染色质拓扑相关结构域的表征方法及装置 |
| US12073922B2 (en) | 2018-07-11 | 2024-08-27 | Illumina, Inc. | Deep learning-based framework for identifying sequence patterns that cause sequence-specific errors (SSEs) |
| WO2020028862A1 (en) * | 2018-08-03 | 2020-02-06 | Nantomics, Llc | Panbam: bambam across multiple organisms in parallel |
| JP6888123B2 (ja) | 2018-10-15 | 2021-06-16 | イルミナ インコーポレイテッド | 深層畳み込みニューラルネットワークを事前訓練するための深層学習ベースの技術 |
| WO2020092855A1 (en) | 2018-10-31 | 2020-05-07 | Tempus Labs | User interface, system, and method for cohort analysis |
| CN109920484A (zh) * | 2019-02-14 | 2019-06-21 | 北京安智因生物技术有限公司 | 一种测序仪用的基因检测数据的分析方法及系统 |
| NL2023316B1 (en) | 2019-03-21 | 2020-09-28 | Illumina Inc | Artificial intelligence-based sequencing |
| WO2020191390A2 (en) | 2019-03-21 | 2020-09-24 | Illumina, Inc. | Artificial intelligence-based quality scoring |
| US11705226B2 (en) | 2019-09-19 | 2023-07-18 | Tempus Labs, Inc. | Data based cancer research and treatment systems and methods |
| CN110910960B (zh) * | 2019-11-30 | 2022-07-08 | 浙江天科高新技术发展有限公司 | 一种鲍曼不动杆菌分子血清型快速分析方法 |
| US20230028058A1 (en) * | 2019-12-16 | 2023-01-26 | Ohio State Innovation Foundation | Next-generation sequencing diagnostic platform and related methods |
| CN111292809B (zh) * | 2020-01-20 | 2021-03-16 | 至本医疗科技(上海)有限公司 | 用于检测rna水平基因融合的方法、电子设备和计算机存储介质 |
| CN111326213B (zh) * | 2020-02-20 | 2023-10-03 | 苏州金唯智生物科技有限公司 | 一种数据分析方法、装置、设备及存储介质 |
| JP2024507168A (ja) * | 2021-02-12 | 2024-02-16 | ベロジェン・インコーポレイテッド | Dnaベースの血縁関係解析のための方法および組成物 |
| US20240412816A1 (en) * | 2021-10-13 | 2024-12-12 | Verogen, Inc. | Methods and compositions for improving accuracy of dna based kinship analysis |
| CN114420208B (zh) * | 2022-02-28 | 2023-04-18 | 上海亿康医学检验所有限公司 | 一种用于鉴定核酸样本中cnv的方法和装置 |
| US12518859B2 (en) * | 2023-07-26 | 2026-01-06 | Helix, Inc. | Systems and methods for providing test results of gene sequencing data on a recurring basis |
| CN119920309B (zh) * | 2025-04-03 | 2025-07-04 | 中国农业科学院农业基因组研究所 | 基于邻近连接Motif序列的Hi-C数据质量快速评估方法Motif-Hi-C及应用 |
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-
2015
- 2015-09-15 EP EP15842246.9A patent/EP3194627B1/en active Active
- 2015-09-15 CN CN201580050718.4A patent/CN107002121B/zh active Active
- 2015-09-15 WO PCT/US2015/050129 patent/WO2016044233A1/en not_active Ceased
- 2015-09-15 KR KR1020177010442A patent/KR102538753B1/ko active Active
- 2015-09-15 AU AU2015318017A patent/AU2015318017B2/en active Active
- 2015-09-15 US US14/854,441 patent/US20160085910A1/en not_active Abandoned
- 2015-09-15 CA CA2960840A patent/CA2960840A1/en active Pending
- 2015-09-15 JP JP2017514334A patent/JP6802154B2/ja active Active
-
2017
- 2017-03-14 SA SA517381091A patent/SA517381091B1/ar unknown
-
2021
- 2021-08-12 US US17/400,165 patent/US20210375396A1/en active Pending
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