CN114555824A - 使用长读测序鉴定基因组结构变体 - Google Patents

使用长读测序鉴定基因组结构变体 Download PDF

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CN114555824A
CN114555824A CN202080071378.4A CN202080071378A CN114555824A CN 114555824 A CN114555824 A CN 114555824A CN 202080071378 A CN202080071378 A CN 202080071378A CN 114555824 A CN114555824 A CN 114555824A
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奥瓦萨·塔图姆
李知恩
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Blackhawk Genomics Co ltd
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Blackhawk Genomics Co ltd
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    • C12Q1/6876—Nucleic acid products used in the analysis of nucleic acids, e.g. primers or probes
    • C12Q1/6883—Nucleic acid products used in the analysis of nucleic acids, e.g. primers or probes for diseases caused by alterations of genetic material
    • C—CHEMISTRY; METALLURGY
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    • C12Q1/68—Measuring or testing processes involving enzymes, nucleic acids or microorganisms; Compositions therefor; Processes of preparing such compositions involving nucleic acids
    • C12Q1/6811—Selection methods for production or design of target specific oligonucleotides or binding molecules
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    • C12N2310/00—Structure or type of the nucleic acid
    • C12N2310/10—Type of nucleic acid
    • C12N2310/20—Type of nucleic acid involving clustered regularly interspaced short palindromic repeats [CRISPR]
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    • C12Q1/00—Measuring or testing processes involving enzymes, nucleic acids or microorganisms; Compositions therefor; Processes of preparing such compositions
    • C12Q1/68—Measuring or testing processes involving enzymes, nucleic acids or microorganisms; Compositions therefor; Processes of preparing such compositions involving nucleic acids
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    • C12Q1/00—Measuring or testing processes involving enzymes, nucleic acids or microorganisms; Compositions therefor; Processes of preparing such compositions
    • C12Q1/68—Measuring or testing processes involving enzymes, nucleic acids or microorganisms; Compositions therefor; Processes of preparing such compositions involving nucleic acids
    • C12Q1/6844—Nucleic acid amplification reactions
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    • C12Q1/00—Measuring or testing processes involving enzymes, nucleic acids or microorganisms; Compositions therefor; Processes of preparing such compositions
    • C12Q1/68—Measuring or testing processes involving enzymes, nucleic acids or microorganisms; Compositions therefor; Processes of preparing such compositions involving nucleic acids
    • C12Q1/6869—Methods for sequencing
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    • C12Q2600/00—Oligonucleotides characterized by their use
    • C12Q2600/156—Polymorphic or mutational markers

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  • General Health & Medical Sciences (AREA)
  • Biophysics (AREA)
  • Pathology (AREA)
  • Measuring Or Testing Involving Enzymes Or Micro-Organisms (AREA)
CN202080071378.4A 2019-10-11 2020-10-12 使用长读测序鉴定基因组结构变体 Pending CN114555824A (zh)

Applications Claiming Priority (5)

Application Number Priority Date Filing Date Title
US201962913886P 2019-10-11 2019-10-11
US62/913,886 2019-10-11
US202062981146P 2020-02-25 2020-02-25
US62/981,146 2020-02-25
PCT/US2020/055293 WO2021072394A1 (en) 2019-10-11 2020-10-12 Identification of genomic structural variants using long-read sequencing

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Publication Number Publication Date
CN114555824A true CN114555824A (zh) 2022-05-27

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CN202080071378.4A Pending CN114555824A (zh) 2019-10-11 2020-10-12 使用长读测序鉴定基因组结构变体

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US (1) US20230028445A1 (https=)
EP (1) EP4041916A4 (https=)
JP (1) JP2022551551A (https=)
CN (1) CN114555824A (https=)
WO (1) WO2021072394A1 (https=)

Cited By (2)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
CN115232866A (zh) * 2022-08-08 2022-10-25 南方医科大学皮肤病医院（广东省皮肤病医院、广东省皮肤性病防治中心、中国麻风防治研究中心） 一种基于纳米孔测序靶向富集细菌16S rRNA基因的测序方法
CN119662814A (zh) * 2025-02-20 2025-03-21 北京贝瑞和康生物技术有限公司 检测戈谢病gba1基因及其假基因gbap1多种突变的引物组、试剂盒及其应用

Families Citing this family (3)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
CN114752668B (zh) * 2022-05-13 2025-08-01 深圳市优圣康生物科技有限公司 Crispr、cas9靶向捕获长片段dna的贫血筛查试剂盒及其方法
WO2025049355A1 (en) * 2023-08-26 2025-03-06 Duke University Compositions comprising nanoparticles for targeted delivery and methods of using the same
WO2025235828A2 (en) * 2024-05-08 2025-11-13 The General Hospital Corporation Engineered prime editors for treating genetic deafness

Citations (2)

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WO2016028887A1 (en) * 2014-08-19 2016-02-25 Pacific Biosciences Of California, Inc. Compositions and methods for enrichment of nucleic acids
CN107787367A (zh) * 2015-04-06 2018-03-09 里兰斯坦福初级大学理事会 用于crispr/cas介导的基因调控的化学修饰的引导rna

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BR112017008877A2 (pt) * 2014-10-29 2018-07-03 10X Genomics Inc métodos e composições para sequenciamento de ácido nucleico-alvo
CN107250445A (zh) * 2015-02-27 2017-10-13 富鲁达公司 用于高通量研究的单个细胞核酸

Patent Citations (2)

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Publication number Priority date Publication date Assignee Title
WO2016028887A1 (en) * 2014-08-19 2016-02-25 Pacific Biosciences Of California, Inc. Compositions and methods for enrichment of nucleic acids
CN107787367A (zh) * 2015-04-06 2018-03-09 里兰斯坦福初级大学理事会 用于crispr/cas介导的基因调控的化学修饰的引导rna

Non-Patent Citations (4)

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Title
CHRISTOPHER M. WATSON ET AL.: "Cas9-based enrichment and single-molecule sequencing for precise characterization of genomic duplications", LABORATORY INVESTIGATION, vol. 100, 4 July 2019 (2019-07-04), pages 135 - 136 *
LABUN, K ET AL.: "CHOPCHOP v3: expanding the CRISPR web toolbox beyond genome editing", NUCLEIC ACIDS, vol. 47, no. 1, 2 July 2019 (2019-07-02), pages 171 *
XIAOXI LIU ET AL.: "Sequence features associated with the cleavage efficiency of CRISPR/Cas9 system", SCIENTIFIC REPORTS, vol. 6, 7 December 2016 (2016-12-07), pages 1 - 9, XP055543782, DOI: 10.1038/srep19675 *
YU-CHIH TSAI ET AL.: "Amplification-free，CRISPR-Cas9 Targeted Enrichment and SMRT Sequencing of Repeat-Expansion Disease Causative Genomic Regions", BIORXIV, vol. 1, 16 October 2017 (2017-10-16), pages 1 - 9 *

Cited By (2)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
CN115232866A (zh) * 2022-08-08 2022-10-25 南方医科大学皮肤病医院（广东省皮肤病医院、广东省皮肤性病防治中心、中国麻风防治研究中心） 一种基于纳米孔测序靶向富集细菌16S rRNA基因的测序方法
CN119662814A (zh) * 2025-02-20 2025-03-21 北京贝瑞和康生物技术有限公司 检测戈谢病gba1基因及其假基因gbap1多种突变的引物组、试剂盒及其应用

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EP4041916A1 (en) 2022-08-17
US20230028445A1 (en) 2023-01-26
WO2021072394A1 (en) 2021-04-15
EP4041916A4 (en) 2023-11-01
JP2022551551A (ja) 2022-12-12

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