SA517381091B1 - طرق وأنظمة لتحليل بيانات توالي الحمض النووي - Google Patents
طرق وأنظمة لتحليل بيانات توالي الحمض النووي Download PDFInfo
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- SA517381091B1 SA517381091B1 SA517381091A SA517381091A SA517381091B1 SA 517381091 B1 SA517381091 B1 SA 517381091B1 SA 517381091 A SA517381091 A SA 517381091A SA 517381091 A SA517381091 A SA 517381091A SA 517381091 B1 SA517381091 B1 SA 517381091B1
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- G16B20/00—ICT specially adapted for functional genomics or proteomics, e.g. genotype-phenotype associations
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- G16B20/00—ICT specially adapted for functional genomics or proteomics, e.g. genotype-phenotype associations
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- G16B20/00—ICT specially adapted for functional genomics or proteomics, e.g. genotype-phenotype associations
- G16B20/20—Allele or variant detection, e.g. single nucleotide polymorphism [SNP] detection
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Applications Claiming Priority (2)
| Application Number | Priority Date | Filing Date | Title |
|---|---|---|---|
| US201462052189P | 2014-09-18 | 2014-09-18 | |
| PCT/US2015/050129 WO2016044233A1 (en) | 2014-09-18 | 2015-09-15 | Methods and systems for analyzing nucleic acid sequencing data |
Publications (1)
| Publication Number | Publication Date |
|---|---|
| SA517381091B1 true SA517381091B1 (ar) | 2021-03-31 |
Family
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Family Applications (1)
| Application Number | Title | Priority Date | Filing Date |
|---|---|---|---|
| SA517381091A SA517381091B1 (ar) | 2014-09-18 | 2017-03-14 | طرق وأنظمة لتحليل بيانات توالي الحمض النووي |
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| Country | Link |
|---|---|
| US (2) | US20160085910A1 (enExample) |
| EP (1) | EP3194627B1 (enExample) |
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| KR (1) | KR102538753B1 (enExample) |
| CN (1) | CN107002121B (enExample) |
| AU (1) | AU2015318017B2 (enExample) |
| SA (1) | SA517381091B1 (enExample) |
| WO (1) | WO2016044233A1 (enExample) |
Families Citing this family (30)
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| PL3077943T3 (pl) | 2013-12-03 | 2020-11-30 | Illumina, Inc. | Sposoby i układy do analizy danych obrazowych |
| 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 |
| WO2018093780A1 (en) | 2016-11-16 | 2018-05-24 | Illumina, Inc. | Validation methods and systems for sequence variant calls |
| 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 |
| KR20220031940A (ko) | 2017-10-16 | 2022-03-14 | 일루미나, 인코포레이티드 | 컨볼루션 신경망(cnn)을 사용하는 비정상 스플라이싱 검출 |
| 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) |
| EP3619653B1 (en) | 2018-01-15 | 2021-05-19 | Illumina Inc. | Deep learning-based variant classifier |
| 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 |
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| CA2960840A1 (en) | 2016-03-24 |
| US20210375396A1 (en) | 2021-12-02 |
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