CN107368705B - 分析生物体的基因组dna的方法和计算机系统 - Google Patents
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Families Citing this family (209)
| Publication number | Priority date | Publication date | Assignee | Title |
|---|---|---|---|---|
| JP5331476B2 (ja) * | 2005-06-15 | 2013-10-30 | カリダ・ジェノミックス・インコーポレイテッド | 遺伝子解析および化学解析用の単分子アレイ |
| US11111543B2 (en) | 2005-07-29 | 2021-09-07 | Natera, Inc. | System and method for cleaning noisy genetic data and determining chromosome copy number |
| US10081839B2 (en) | 2005-07-29 | 2018-09-25 | Natera, Inc | System and method for cleaning noisy genetic data and determining chromosome copy number |
| US10083273B2 (en) | 2005-07-29 | 2018-09-25 | Natera, Inc. | System and method for cleaning noisy genetic data and determining chromosome copy number |
| 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 |
| US11111544B2 (en) | 2005-07-29 | 2021-09-07 | Natera, Inc. | System and method for cleaning noisy genetic data and determining chromosome copy number |
| US8592150B2 (en) | 2007-12-05 | 2013-11-26 | Complete Genomics, Inc. | Methods and compositions for long fragment read sequencing |
| US9524369B2 (en) | 2009-06-15 | 2016-12-20 | Complete Genomics, Inc. | Processing and analysis of complex nucleic acid sequence data |
| US20120185176A1 (en) | 2009-09-30 | 2012-07-19 | 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 |
| US10316362B2 (en) | 2010-05-18 | 2019-06-11 | Natera, Inc. | Methods for simultaneous amplification of target loci |
| US20190010543A1 (en) | 2010-05-18 | 2019-01-10 | Natera, Inc. | Methods for simultaneous amplification of target loci |
| US12221653B2 (en) | 2010-05-18 | 2025-02-11 | Natera, Inc. | Methods for simultaneous amplification of target loci |
| US9677118B2 (en) | 2014-04-21 | 2017-06-13 | 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 |
| US11326208B2 (en) | 2010-05-18 | 2022-05-10 | Natera, Inc. | Methods for nested PCR amplification of cell-free DNA |
| US11408031B2 (en) | 2010-05-18 | 2022-08-09 | Natera, Inc. | Methods for non-invasive prenatal paternity testing |
| US12152275B2 (en) | 2010-05-18 | 2024-11-26 | Natera, Inc. | Methods for non-invasive prenatal ploidy calling |
| EP2572003A4 (en) | 2010-05-18 | 2016-01-13 | Natera Inc | METHOD FOR NONINVASIVE PRANATAL PLOIDIE ASSIGNMENT |
| US11339429B2 (en) | 2010-05-18 | 2022-05-24 | Natera, Inc. | Methods for non-invasive prenatal ploidy calling |
| US11322224B2 (en) | 2010-05-18 | 2022-05-03 | Natera, Inc. | Methods for non-invasive prenatal ploidy calling |
| US12545960B2 (en) | 2010-05-18 | 2026-02-10 | Natera, Inc. | Methods for simultaneous amplification of target loci |
| US11332785B2 (en) | 2010-05-18 | 2022-05-17 | Natera, Inc. | Methods for non-invasive prenatal ploidy calling |
| WO2012088456A2 (en) | 2010-12-22 | 2012-06-28 | Natera, Inc. | Methods for non-invasive prenatal paternity testing |
| AU2011358564B9 (en) | 2011-02-09 | 2017-07-13 | Natera, Inc | Methods for non-invasive prenatal ploidy calling |
| US11591637B2 (en) | 2012-08-14 | 2023-02-28 | 10X Genomics, Inc. | Compositions and methods for sample processing |
| US9951386B2 (en) | 2014-06-26 | 2018-04-24 | 10X Genomics, Inc. | Methods and systems for processing polynucleotides |
| US9701998B2 (en) | 2012-12-14 | 2017-07-11 | 10X Genomics, Inc. | Methods and systems for processing polynucleotides |
| CA3216609C (en) | 2012-08-14 | 2024-05-14 | 10X Genomics, Inc. | Microcapsule compositions and methods |
| US10323279B2 (en) | 2012-08-14 | 2019-06-18 | 10X Genomics, Inc. | Methods and systems for processing polynucleotides |
| US10752949B2 (en) | 2012-08-14 | 2020-08-25 | 10X Genomics, Inc. | Methods and systems for processing polynucleotides |
| US10584381B2 (en) | 2012-08-14 | 2020-03-10 | 10X Genomics, Inc. | Methods and systems for processing polynucleotides |
| US20140100126A1 (en) | 2012-08-17 | 2014-04-10 | Natera, Inc. | Method for Non-Invasive Prenatal Testing Using Parental Mosaicism Data |
| CA2891939C (en) | 2012-11-19 | 2020-10-27 | Apton Biosystems, Inc. | Digital analysis of molecular analytes using single molecule detection |
| US10829816B2 (en) | 2012-11-19 | 2020-11-10 | Apton Biosystems, Inc. | Methods of analyte detection |
| US10533221B2 (en) | 2012-12-14 | 2020-01-14 | 10X Genomics, Inc. | Methods and systems for processing polynucleotides |
| US10847251B2 (en) | 2013-01-17 | 2020-11-24 | Illumina, Inc. | Genomic infrastructure for on-site or cloud-based DNA and RNA processing and analysis |
| US9679104B2 (en) | 2013-01-17 | 2017-06-13 | Edico Genome, Corp. | Bioinformatics systems, apparatuses, and methods executed on an integrated circuit processing platform |
| US10691775B2 (en) | 2013-01-17 | 2020-06-23 | Edico Genome, Corp. | Bioinformatics systems, apparatuses, and methods executed on an integrated circuit processing platform |
| GB2523495A (en) | 2013-01-17 | 2015-08-26 | Edico Genome Corp | Bioinformatics systems, apparatuses, and methods executed on an integrated circuit processing platform |
| US10068054B2 (en) | 2013-01-17 | 2018-09-04 | Edico Genome, Corp. | Bioinformatics systems, apparatuses, and methods executed on an integrated circuit processing platform |
| US9792405B2 (en) | 2013-01-17 | 2017-10-17 | Edico Genome, Corp. | Bioinformatics systems, apparatuses, and methods executed on an integrated circuit processing platform |
| EP2958574A4 (en) * | 2013-01-23 | 2016-11-02 | Reproductive Genetics And Technology Solutions Llc | COMPOSITIONS AND METHODS FOR GENETIC ANALYSIS OF EMBRYOS |
| US9411930B2 (en) | 2013-02-01 | 2016-08-09 | The Regents Of The University Of California | Methods for genome assembly and haplotype phasing |
| EP3885446A1 (en) * | 2013-02-01 | 2021-09-29 | The Regents of The University of California | Methods for genome assembly and haplotype phasing |
| AU2014214682B2 (en) | 2013-02-08 | 2018-07-26 | 10X Genomics, Inc. | Polynucleotide barcode generation |
| WO2014129894A1 (en) * | 2013-02-19 | 2014-08-28 | Cergentis B.V. | Sequencing strategies for genomic regions of interest |
| WO2014151554A1 (en) * | 2013-03-15 | 2014-09-25 | The Trustees Of The University Of Pennsylvania | Phi29 method for library preparation |
| US9328382B2 (en) | 2013-03-15 | 2016-05-03 | Complete Genomics, Inc. | Multiple tagging of individual long DNA fragments |
| EP3022320B2 (en) * | 2013-07-19 | 2024-09-25 | Ludwig Institute for Cancer Research Ltd | Whole-genome and targeted haplotype reconstruction |
| US9116866B2 (en) | 2013-08-21 | 2015-08-25 | Seven Bridges Genomics Inc. | Methods and systems for detecting sequence variants |
| US9898575B2 (en) | 2013-08-21 | 2018-02-20 | Seven Bridges Genomics Inc. | Methods and systems for aligning sequences |
| US10726942B2 (en) | 2013-08-23 | 2020-07-28 | Complete Genomics, Inc. | Long fragment de novo assembly using short reads |
| US10395758B2 (en) | 2013-08-30 | 2019-08-27 | 10X Genomics, Inc. | Sequencing methods |
| US10577655B2 (en) | 2013-09-27 | 2020-03-03 | Natera, Inc. | Cell free DNA diagnostic testing standards |
| US10262755B2 (en) | 2014-04-21 | 2019-04-16 | Natera, Inc. | Detecting cancer mutations and aneuploidy in chromosomal segments |
| CN105593683B (zh) * | 2013-10-01 | 2018-11-30 | 考利达基因组股份有限公司 | 鉴定基因组中的变异的定相和连接方法 |
| JP2017500004A (ja) | 2013-10-18 | 2017-01-05 | セブン ブリッジズ ジェノミクス インコーポレイテッド | 遺伝子試料について遺伝子型解析するための方法およびシステム |
| AU2014337093B2 (en) | 2013-10-18 | 2020-07-30 | Seven Bridges Genomics Inc. | Methods and systems for identifying disease-induced mutations |
| US11049587B2 (en) | 2013-10-18 | 2021-06-29 | Seven Bridges Genomics Inc. | Methods and systems for aligning sequences in the presence of repeating elements |
| WO2015058095A1 (en) | 2013-10-18 | 2015-04-23 | Seven Bridges Genomics Inc. | Methods and systems for quantifying sequence alignment |
| US9063914B2 (en) | 2013-10-21 | 2015-06-23 | Seven Bridges Genomics Inc. | Systems and methods for transcriptome analysis |
| EP3084002A4 (en) | 2013-12-16 | 2017-08-23 | Complete Genomics, Inc. | Basecaller for dna sequencing using machine learning |
| US9824068B2 (en) | 2013-12-16 | 2017-11-21 | 10X Genomics, Inc. | Methods and apparatus for sorting data |
| EP3092317B1 (en) | 2014-01-10 | 2021-04-21 | Seven Bridges Genomics Inc. | Systems and methods for use of known alleles in read mapping |
| US9817944B2 (en) | 2014-02-11 | 2017-11-14 | Seven Bridges Genomics Inc. | Systems and methods for analyzing sequence data |
| WO2015157567A1 (en) | 2014-04-10 | 2015-10-15 | 10X Genomics, Inc. | Fluidic devices, systems, and methods for encapsulating and partitioning reagents, and applications of same |
| US12492429B2 (en) | 2014-04-21 | 2025-12-09 | Natera, Inc. | Detecting mutations and ploidy in chromosomal segments |
| EP3957749A1 (en) | 2014-04-21 | 2022-02-23 | Natera, Inc. | Detecting tumour specific mutations in biopsies with whole exome sequencing and in cell-free samples |
| US20180173845A1 (en) | 2014-06-05 | 2018-06-21 | Natera, Inc. | Systems and Methods for Detection of Aneuploidy |
| JP2017526046A (ja) | 2014-06-26 | 2017-09-07 | １０エックス ゲノミクス，インコーポレイテッド | 核酸配列アセンブルのプロセス及びシステム |
| CN113249435B (zh) | 2014-06-26 | 2024-09-03 | 10X基因组学有限公司 | 分析来自单个细胞或细胞群体的核酸的方法 |
| US12312640B2 (en) | 2014-06-26 | 2025-05-27 | 10X Genomics, Inc. | Analysis of nucleic acid sequences |
| MX2016016904A (es) | 2014-06-26 | 2017-03-27 | 10X Genomics Inc | Analisis de secuencias de acidos nucleicos. |
| CA2956925C (en) | 2014-08-01 | 2024-02-13 | Dovetail Genomics, Llc | Tagging nucleic acids for sequence assembly |
| CA2964349C (en) | 2014-10-14 | 2023-03-21 | Seven Bridges Genomics Inc. | Systems and methods for smart tools in sequence pipelines |
| US10020300B2 (en) | 2014-12-18 | 2018-07-10 | Agilome, Inc. | Graphene FET devices, systems, and methods of using the same for sequencing nucleic acids |
| US9859394B2 (en) | 2014-12-18 | 2018-01-02 | Agilome, Inc. | Graphene FET devices, systems, and methods of using the same for sequencing nucleic acids |
| US10429342B2 (en) | 2014-12-18 | 2019-10-01 | Edico Genome Corporation | Chemically-sensitive field effect transistor |
| US9618474B2 (en) | 2014-12-18 | 2017-04-11 | Edico Genome, Inc. | Graphene FET devices, systems, and methods of using the same for sequencing nucleic acids |
| US10006910B2 (en) | 2014-12-18 | 2018-06-26 | Agilome, Inc. | Chemically-sensitive field effect transistors, systems, and methods for manufacturing and using the same |
| US9857328B2 (en) | 2014-12-18 | 2018-01-02 | Agilome, Inc. | Chemically-sensitive field effect transistors, systems and methods for manufacturing and using the same |
| SG11201705615UA (en) | 2015-01-12 | 2017-08-30 | 10X Genomics Inc | Processes and systems for preparing nucleic acid sequencing libraries and libraries prepared using same |
| EP3245605B1 (en) * | 2015-01-13 | 2022-04-20 | 10X Genomics, Inc. | Systems and methods for visualizing structural variation and phasing information |
| CN105986011B (zh) * | 2015-01-30 | 2019-10-15 | 深圳华大基因研究院 | 一种杂合性缺失的检测方法 |
| WO2016130578A1 (en) | 2015-02-09 | 2016-08-18 | 10X Genomics, Inc. | Systems and methods for determining structural variation and phasing using variant call data |
| NZ734854A (en) | 2015-02-17 | 2022-11-25 | Dovetail Genomics Llc | Nucleic acid sequence assembly |
| US10192026B2 (en) | 2015-03-05 | 2019-01-29 | Seven Bridges Genomics Inc. | Systems and methods for genomic pattern analysis |
| EP3329491A2 (en) | 2015-03-23 | 2018-06-06 | Edico Genome Corporation | Method and system for genomic visualization |
| US11807896B2 (en) | 2015-03-26 | 2023-11-07 | Dovetail Genomics, Llc | Physical linkage preservation in DNA storage |
| WO2016183106A1 (en) * | 2015-05-11 | 2016-11-17 | Natera, Inc. | Methods and compositions for determining ploidy |
| US10275567B2 (en) | 2015-05-22 | 2019-04-30 | Seven Bridges Genomics Inc. | Systems and methods for haplotyping |
| US10793895B2 (en) | 2015-08-24 | 2020-10-06 | Seven Bridges Genomics Inc. | Systems and methods for epigenetic analysis |
| US10584380B2 (en) | 2015-09-01 | 2020-03-10 | Seven Bridges Genomics Inc. | Systems and methods for mitochondrial analysis |
| US10724110B2 (en) | 2015-09-01 | 2020-07-28 | Seven Bridges Genomics Inc. | Systems and methods for analyzing viral nucleic acids |
| US11347704B2 (en) | 2015-10-16 | 2022-05-31 | Seven Bridges Genomics Inc. | Biological graph or sequence serialization |
| CA3002740A1 (en) | 2015-10-19 | 2017-04-27 | Dovetail Genomics, Llc | Methods for genome assembly, haplotype phasing, and target independent nucleic acid detection |
| US20170141793A1 (en) * | 2015-11-13 | 2017-05-18 | Microsoft Technology Licensing, Llc | Error correction for nucleotide data stores |
| US11371094B2 (en) | 2015-11-19 | 2022-06-28 | 10X Genomics, Inc. | Systems and methods for nucleic acid processing using degenerate nucleotides |
| US20170199960A1 (en) | 2016-01-07 | 2017-07-13 | Seven Bridges Genomics Inc. | Systems and methods for adaptive local alignment for graph genomes |
| US10068183B1 (en) | 2017-02-23 | 2018-09-04 | Edico Genome, Corp. | Bioinformatics systems, apparatuses, and methods executed on a quantum processing platform |
| US20170270245A1 (en) | 2016-01-11 | 2017-09-21 | Edico Genome, Corp. | Bioinformatics systems, apparatuses, and methods for performing secondary and/or tertiary processing |
| US10364468B2 (en) | 2016-01-13 | 2019-07-30 | Seven Bridges Genomics Inc. | Systems and methods for analyzing circulating tumor DNA |
| US10460829B2 (en) | 2016-01-26 | 2019-10-29 | Seven Bridges Genomics Inc. | Systems and methods for encoding genetic variation for a population |
| JP6735348B2 (ja) | 2016-02-11 | 2020-08-05 | １０エックス ジェノミクス， インコーポレイテッド | 全ゲノム配列データのデノボアセンブリのためのシステム、方法及び媒体 |
| JP7441003B2 (ja) | 2016-02-23 | 2024-02-29 | ダブテイル ゲノミクス エルエルシー | ゲノムアセンブリのためのフェージングされたリードセットの生成とハプロタイプフェージング |
| US10262102B2 (en) | 2016-02-24 | 2019-04-16 | Seven Bridges Genomics Inc. | Systems and methods for genotyping with graph reference |
| WO2017181202A2 (en) | 2016-04-15 | 2017-10-19 | Natera, Inc. | Methods for lung cancer detection |
| WO2017197300A1 (en) | 2016-05-13 | 2017-11-16 | Dovetail Genomics Llc | Recovering long-range linkage information from preserved samples |
| WO2017201081A1 (en) | 2016-05-16 | 2017-11-23 | Agilome, Inc. | Graphene fet devices, systems, and methods of using the same for sequencing nucleic acids |
| US10790044B2 (en) | 2016-05-19 | 2020-09-29 | Seven Bridges Genomics Inc. | Systems and methods for sequence encoding, storage, and compression |
| 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 |
| US11289177B2 (en) | 2016-08-08 | 2022-03-29 | Seven Bridges Genomics, Inc. | Computer method and system of identifying genomic mutations using graph-based local assembly |
| US11250931B2 (en) | 2016-09-01 | 2022-02-15 | Seven Bridges Genomics Inc. | Systems and methods for detecting recombination |
| US11485996B2 (en) | 2016-10-04 | 2022-11-01 | Natera, Inc. | Methods for characterizing copy number variation using proximity-litigation sequencing |
| GB201618485D0 (en) | 2016-11-02 | 2016-12-14 | Ucl Business Plc | Method of detecting tumour recurrence |
| US10319465B2 (en) | 2016-11-16 | 2019-06-11 | Seven Bridges Genomics Inc. | Systems and methods for aligning sequences to graph references |
| US10011870B2 (en) | 2016-12-07 | 2018-07-03 | Natera, Inc. | Compositions and methods for identifying nucleic acid molecules |
| CN108234551B (zh) * | 2016-12-15 | 2021-06-25 | 腾讯科技（深圳）有限公司 | 一种数据处理方法及装置 |
| US10815525B2 (en) | 2016-12-22 | 2020-10-27 | 10X Genomics, Inc. | Methods and systems for processing polynucleotides |
| US10011872B1 (en) | 2016-12-22 | 2018-07-03 | 10X Genomics, Inc. | Methods and systems for processing polynucleotides |
| US10550429B2 (en) | 2016-12-22 | 2020-02-04 | 10X Genomics, Inc. | Methods and systems for processing polynucleotides |
| US12264411B2 (en) | 2017-01-30 | 2025-04-01 | 10X Genomics, Inc. | Methods and systems for analysis |
| CN110214186B (zh) | 2017-01-30 | 2023-11-24 | 10X基因组学有限公司 | 用于基于微滴的单细胞条形编码的方法和系统 |
| US10995333B2 (en) | 2017-02-06 | 2021-05-04 | 10X Genomics, Inc. | Systems and methods for nucleic acid preparation |
| US10894976B2 (en) | 2017-02-21 | 2021-01-19 | Natera, Inc. | Compositions, methods, and kits for isolating nucleic acids |
| US11347844B2 (en) | 2017-03-01 | 2022-05-31 | Seven Bridges Genomics, Inc. | Data security in bioinformatic sequence analysis |
| US10726110B2 (en) | 2017-03-01 | 2020-07-28 | Seven Bridges Genomics, Inc. | Watermarking for data security in bioinformatic sequence analysis |
| WO2018170518A1 (en) | 2017-03-17 | 2018-09-20 | Apton Biosystems, Inc. | Sequencing and high resolution imaging |
| EP3625715A4 (en) | 2017-05-19 | 2021-03-17 | 10X Genomics, Inc. | DATA SET ANALYSIS SYSTEMS AND METHODS |
| US10837047B2 (en) | 2017-10-04 | 2020-11-17 | 10X Genomics, Inc. | Compositions, methods, and systems for bead formation using improved polymers |
| WO2019084043A1 (en) | 2017-10-26 | 2019-05-02 | 10X Genomics, Inc. | METHODS AND SYSTEMS FOR NUCLEIC ACID PREPARATION AND CHROMATIN ANALYSIS |
| CN114525273B (zh) | 2017-10-27 | 2025-01-28 | 10X基因组学有限公司 | 用于样品制备和分析的方法和系统 |
| EP3954782A1 (en) | 2017-11-15 | 2022-02-16 | 10X Genomics, Inc. | Functionalized gel beads |
| US10829815B2 (en) | 2017-11-17 | 2020-11-10 | 10X Genomics, Inc. | Methods and systems for associating physical and genetic properties of biological particles |
| WO2019108851A1 (en) | 2017-11-30 | 2019-06-06 | 10X Genomics, Inc. | Systems and methods for nucleic acid preparation and analysis |
| CN118818037A (zh) | 2017-12-12 | 2024-10-22 | 10X基因组学有限公司 | 用于单细胞处理的系统和方法 |
| JP2021506342A (ja) | 2017-12-14 | 2021-02-22 | ティーエーアイ ダイアグノスティックス インコーポレイテッドＴａｉ Ｄｉａｇｎｏｓｔｉｃｓ，Ｉｎｃ． | 移植のための移植片適合性の評価 |
| CN118547046A (zh) | 2017-12-22 | 2024-08-27 | 10X基因组学有限公司 | 用于处理来自一个或多个细胞的核酸分子的系统和方法 |
| WO2019152543A1 (en) | 2018-01-31 | 2019-08-08 | Dovetail Genomics, Llc | Sample prep for dna linkage recovery |
| WO2019157529A1 (en) | 2018-02-12 | 2019-08-15 | 10X Genomics, Inc. | Methods characterizing multiple analytes from individual cells or cell populations |
| US12046325B2 (en) | 2018-02-14 | 2024-07-23 | Seven Bridges Genomics Inc. | System and method for sequence identification in reassembly variant calling |
| US12398389B2 (en) | 2018-02-15 | 2025-08-26 | Natera, Inc. | Methods for isolating nucleic acids with size selection |
| US11639928B2 (en) | 2018-02-22 | 2023-05-02 | 10X Genomics, Inc. | Methods and systems for characterizing analytes from individual cells or cell populations |
| WO2019169028A1 (en) | 2018-02-28 | 2019-09-06 | 10X Genomics, Inc. | Transcriptome sequencing through random ligation |
| CN112262218B (zh) | 2018-04-06 | 2024-11-08 | 10X基因组学有限公司 | 用于单细胞处理中的质量控制的系统和方法 |
| CA3090426A1 (en) | 2018-04-14 | 2019-10-17 | Natera, Inc. | Methods for cancer detection and monitoring by means of personalized detection of circulating tumor dna |
| CN120624607A (zh) | 2018-05-08 | 2025-09-12 | 深圳华大智造科技股份有限公司 | 用于准确且经济高效的测序、单体型分型和组装的基于单管珠粒的dna共条形码化 |
| WO2019217758A1 (en) | 2018-05-10 | 2019-11-14 | 10X Genomics, Inc. | Methods and systems for molecular library generation |
| US11932899B2 (en) | 2018-06-07 | 2024-03-19 | 10X Genomics, Inc. | Methods and systems for characterizing nucleic acid molecules |
| US11703427B2 (en) | 2018-06-25 | 2023-07-18 | 10X Genomics, Inc. | Methods and systems for cell and bead processing |
| US12234509B2 (en) | 2018-07-03 | 2025-02-25 | Natera, Inc. | Methods for detection of donor-derived cell-free DNA |
| US12188014B1 (en) | 2018-07-25 | 2025-01-07 | 10X Genomics, Inc. | Compositions and methods for nucleic acid processing using blocking agents |
| US20200032335A1 (en) | 2018-07-27 | 2020-01-30 | 10X Genomics, Inc. | Systems and methods for metabolome analysis |
| EP3830289B1 (en) | 2018-08-03 | 2026-02-11 | 10X Genomics, Inc. | Methods to minimize barcode exchange |
| WO2020041148A1 (en) | 2018-08-20 | 2020-02-27 | 10X Genomics, Inc. | Methods and systems for detection of protein-dna interactions using proximity ligation |
| US12065688B2 (en) | 2018-08-20 | 2024-08-20 | 10X Genomics, Inc. | Compositions and methods for cellular processing |
| CN109273052B (zh) * | 2018-09-13 | 2022-03-18 | 北京百迈客生物科技有限公司 | 一种基因组单倍体组装方法及装置 |
| KR102926915B1 (ko) | 2018-09-19 | 2026-02-13 | 퍼시픽 바이오사이언스 오브 캘리포니아, 인크. | 밀집 패킹된 분석물층 및 검출 방법 |
| CN113168888B (zh) * | 2018-10-23 | 2025-04-18 | 深圳华大智造科技股份有限公司 | 基于fpga的重测序分析方法和装置 |
| US11459607B1 (en) | 2018-12-10 | 2022-10-04 | 10X Genomics, Inc. | Systems and methods for processing-nucleic acid molecules from a single cell using sequential co-partitioning and composite barcodes |
| WO2020123647A1 (en) * | 2018-12-12 | 2020-06-18 | University Of Washington | Current-to-current nanopore data blast alignment |
| US12169198B2 (en) | 2019-01-08 | 2024-12-17 | 10X Genomics, Inc. | Systems and methods for sample analysis |
| US11845983B1 (en) | 2019-01-09 | 2023-12-19 | 10X Genomics, Inc. | Methods and systems for multiplexing of droplet based assays |
| WO2020157684A1 (en) | 2019-01-29 | 2020-08-06 | Mgi Tech Co., Ltd. | High coverage stlfr |
| CN113661392B (zh) * | 2019-02-05 | 2025-05-27 | 卡蒂亚生物公司 | 有效靶向基因组操纵剂的增强选择 |
| US12305239B2 (en) | 2019-02-12 | 2025-05-20 | 10X Genomics, Inc. | Analysis of nucleic acid sequences |
| SG11202108788TA (en) | 2019-02-12 | 2021-09-29 | 10X Genomics Inc | Methods for processing nucleic acid molecules |
| WO2020167866A1 (en) | 2019-02-12 | 2020-08-20 | 10X Genomics, Inc. | Systems and methods for transposon loading |
| US12275993B2 (en) | 2019-02-12 | 2025-04-15 | 10X Genomics, Inc. | Analysis of nucleic acid sequences |
| US11851683B1 (en) | 2019-02-12 | 2023-12-26 | 10X Genomics, Inc. | Methods and systems for selective analysis of cellular samples |
| US11467153B2 (en) | 2019-02-12 | 2022-10-11 | 10X Genomics, Inc. | Methods for processing nucleic acid molecules |
| WO2020167862A1 (en) | 2019-02-12 | 2020-08-20 | 10X Genomics, Inc. | Systems and methods for transfer of reagents between droplets |
| US11655499B1 (en) | 2019-02-25 | 2023-05-23 | 10X Genomics, Inc. | Detection of sequence elements in nucleic acid molecules |
| CN113767178A (zh) | 2019-03-11 | 2021-12-07 | 10X基因组学有限公司 | 用于处理光学标签化珠粒的系统和方法 |
| US11783917B2 (en) * | 2019-03-21 | 2023-10-10 | Illumina, Inc. | Artificial intelligence-based base calling |
| US11210554B2 (en) | 2019-03-21 | 2021-12-28 | Illumina, Inc. | Artificial intelligence-based generation of sequencing metadata |
| CN113811619A (zh) | 2019-03-27 | 2021-12-17 | 10X基因组学有限公司 | 用于处理来自细胞的rna的系统和方法 |
| US11593649B2 (en) | 2019-05-16 | 2023-02-28 | Illumina, Inc. | Base calling using convolutions |
| US11423306B2 (en) | 2019-05-16 | 2022-08-23 | Illumina, Inc. | Systems and devices for characterization and performance analysis of pixel-based sequencing |
| EP3980559A1 (en) | 2019-06-06 | 2022-04-13 | Natera, Inc. | Methods for detecting immune cell dna and monitoring immune system |
| US12235262B1 (en) | 2019-09-09 | 2025-02-25 | 10X Genomics, Inc. | Methods and systems for single cell protein analysis |
| EP4041307A4 (en) * | 2019-09-30 | 2023-10-18 | Myome, Inc. | POLYGENIC RISK SCORE FOR IN VITRO FERTILIZATION |
| US12449419B1 (en) | 2020-02-12 | 2025-10-21 | 10X Genomics, Inc. | Methods for detecting binding of peptide-MHC monomers to T cells |
| CN115428088A (zh) | 2020-02-13 | 2022-12-02 | 10X基因组学有限公司 | 用于基因表达和dna染色质可及性的联合交互式可视化的系统和方法 |
| US12354008B2 (en) | 2020-02-20 | 2025-07-08 | Illumina, Inc. | Knowledge distillation and gradient pruning-based compression of artificial intelligence-based base caller |
| US12592298B2 (en) | 2020-02-20 | 2026-03-31 | Illumina, Inc. | Hardware execution and acceleration of artificial intelligence-based base caller |
| CA3168435A1 (en) | 2020-02-20 | 2021-08-26 | Illumina Inc. | Artificial intelligence-based many-to-many base calling |
| US12591780B2 (en) | 2020-02-20 | 2026-03-31 | Illumina, Inc. | Data compression for artificial intelligence-based base calling |
| CN111445953B (zh) * | 2020-03-27 | 2022-04-26 | 武汉古奥基因科技有限公司 | 一种利用全基因组比对拆分四倍体鱼类亚基因组的方法 |
| US11851700B1 (en) | 2020-05-13 | 2023-12-26 | 10X Genomics, Inc. | Methods, kits, and compositions for processing extracellular molecules |
| CN111755074B (zh) * | 2020-07-03 | 2022-05-17 | 桂林电子科技大学 | 一种酿酒酵母菌中dna复制起点的预测方法 |
| JP2023536325A (ja) * | 2020-08-05 | 2023-08-24 | イニヴァータ リミテッド | 試料中のがんｄｎａを検出するための高感度の方法 |
| US12084715B1 (en) | 2020-11-05 | 2024-09-10 | 10X Genomics, Inc. | Methods and systems for reducing artifactual antisense products |
| US12480158B1 (en) | 2020-11-05 | 2025-11-25 | 10X Genomics, Inc. | Methods and systems for processing polynucleotides |
| CN112712853B (zh) * | 2020-12-31 | 2023-11-21 | 北京优迅医学检验实验室有限公司 | 一种无创产前检测装置 |
| US12398262B1 (en) | 2021-01-22 | 2025-08-26 | 10X Genomics, Inc. | Triblock copolymer-based cell stabilization and fixation system and methods of use thereof |
| CN120158497A (zh) | 2021-02-23 | 2025-06-17 | 10X基因组学有限公司 | 基于探针的核酸和蛋白质分析 |
| US20220301657A1 (en) | 2021-03-16 | 2022-09-22 | Illumina, Inc. | Tile location and/or cycle based weight set selection for base calling |
| US12217829B2 (en) | 2021-04-15 | 2025-02-04 | Illumina, Inc. | Artificial intelligence-based analysis of protein three-dimensional (3D) structures |
| US20220336057A1 (en) | 2021-04-15 | 2022-10-20 | Illumina, Inc. | Efficient voxelization for deep learning |
| US12176070B2 (en) * | 2021-04-19 | 2024-12-24 | University Of Utah Research Foundation | Systems and methods for facilitating rapid genome sequence analysis |
| JP2024519501A (ja) * | 2021-05-05 | 2024-05-14 | ザ ボード オブ トラスティーズ オブ ザ レランド スタンフォード ジュニア ユニバーシティー | 核酸分子を分析するための方法およびシステム |
| US12530882B2 (en) | 2021-07-01 | 2026-01-20 | Illumina, Inc. | Efficient artificial intelligence-based base calling of index sequences |
| US20240240174A1 (en) | 2021-07-22 | 2024-07-18 | Mgi Tech Co., Ltd. | Nick-ligate stlfr |
| US12431218B2 (en) | 2022-03-08 | 2025-09-30 | Illumina, Inc. | Multi-pass software-accelerated genomic read mapping engine |
| CN115035948B (zh) * | 2022-07-20 | 2023-01-24 | 北京阅微基因技术股份有限公司 | 一种str引物的设计方法和系统 |
| CN115985400B (zh) * | 2022-12-02 | 2024-03-15 | 江苏先声医疗器械有限公司 | 一种宏基因组多重比对序列重分配的方法及应用 |
| CN120584192A (zh) * | 2023-01-26 | 2025-09-02 | 瑞泽恩制药公司 | 用于校正测序数据中的噪声和系统性变化的系统和方法 |
Family Cites Families (15)
| Publication number | Priority date | Publication date | Assignee | Title |
|---|---|---|---|---|
| US7534568B2 (en) * | 1999-10-29 | 2009-05-19 | Hologic Inc. | Methods for detection of a target nucleic acid by forming a cleavage structure with a cleavage resistant probe |
| EP1451755A2 (en) * | 2001-12-03 | 2004-09-01 | DNAprint Genomics, Inc. | Methods and apparatus for complex genetics classification based on correspondence analysis and linear/quadratic analysis |
| US20040072217A1 (en) * | 2002-06-17 | 2004-04-15 | Affymetrix, Inc. | Methods of analysis of linkage disequilibrium |
| JP2004234580A (ja) * | 2003-01-31 | 2004-08-19 | Fujitsu Ltd | ゲノム情報解析支援方法、ゲノム情報解析支援プログラムおよびゲノム情報解析支援装置 |
| US20050026173A1 (en) * | 2003-02-27 | 2005-02-03 | Methexis Genomics, N.V. | Genetic diagnosis using multiple sequence variant analysis combined with mass spectrometry |
| US7565346B2 (en) * | 2004-05-31 | 2009-07-21 | International Business Machines Corporation | System and method for sequence-based subspace pattern clustering |
| AU2005284980A1 (en) * | 2004-09-10 | 2006-03-23 | Sequenom, Inc. | Methods for long-range sequence analysis of nucleic acids |
| JP5331476B2 (ja) * | 2005-06-15 | 2013-10-30 | カリダ・ジェノミックス・インコーポレイテッド | 遺伝子解析および化学解析用の単分子アレイ |
| CN1807580B (zh) * | 2006-01-23 | 2010-05-12 | 重庆大学 | 一种从感病昆虫血淋巴中分离纯化昆虫病原真菌菌体的方法 |
| CA2643700A1 (en) * | 2006-02-24 | 2007-11-22 | Callida Genomics, Inc. | High throughput genome sequencing on dna arrays |
| EP2390335A3 (en) * | 2007-05-23 | 2012-03-21 | Syngenta Participations AG | Polynucleotide markers |
| MX2009013649A (es) * | 2007-06-13 | 2010-01-27 | Decode Genetics Ehf | Variantes geneticas en el cromosoma 15q24 como marcadores para usarse en diagnostico, prognosis y tratamiento de sindrome de exfoliacion y glaucoma. |
| US8592150B2 (en) * | 2007-12-05 | 2013-11-26 | Complete Genomics, Inc. | Methods and compositions for long fragment read sequencing |
| US8407554B2 (en) * | 2009-02-03 | 2013-03-26 | Complete Genomics, Inc. | Method and apparatus for quantification of DNA sequencing quality and construction of a characterizable model system using Reed-Solomon codes |
| EP2282031B1 (en) * | 2009-07-02 | 2012-06-06 | Eurocopter Deutschland GmbH | Filtering device with integrated bypass for an air inlet |
-
2012
- 2012-04-13 AU AU2012242525A patent/AU2012242525B2/en active Active
- 2012-04-13 CA CA2833165A patent/CA2833165A1/en not_active Abandoned
- 2012-04-13 CN CN201710362635.XA patent/CN107368705B/zh active Active
- 2012-04-13 WO PCT/US2012/033686 patent/WO2012142531A2/en not_active Ceased
- 2012-04-13 CN CN201280029331.7A patent/CN103843001B/zh active Active
- 2012-04-13 EP EP12771129.9A patent/EP2754078A4/en not_active Withdrawn
- 2012-04-13 JP JP2014505385A patent/JP2014516514A/ja active Pending
- 2012-04-16 US US13/448,279 patent/US20140051588A9/en not_active Abandoned
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2017
- 2017-04-20 JP JP2017083584A patent/JP2017184742A/ja active Pending
Also Published As
| Publication number | Publication date |
|---|---|
| HK1246901A1 (zh) | 2018-09-14 |
| EP2754078A4 (en) | 2015-12-02 |
| WO2012142531A2 (en) | 2012-10-18 |
| CA2833165A1 (en) | 2012-10-18 |
| AU2012242525B2 (en) | 2015-09-17 |
| US20130059740A1 (en) | 2013-03-07 |
| JP2014516514A (ja) | 2014-07-17 |
| JP2017184742A (ja) | 2017-10-12 |
| AU2012242525A1 (en) | 2013-05-02 |
| CN103843001A (zh) | 2014-06-04 |
| WO2012142531A3 (en) | 2014-05-08 |
| US20140051588A9 (en) | 2014-02-20 |
| CN107368705A (zh) | 2017-11-21 |
| CN103843001B (zh) | 2017-06-09 |
| EP2754078A2 (en) | 2014-07-16 |
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