JP2022551551A - ロングリードシークエンシングを用いたゲノム構造バリアントの同定 - Google Patents

ロングリードシークエンシングを用いたゲノム構造バリアントの同定 Download PDF

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JP2022551551A
JP2022551551A JP2022506030A JP2022506030A JP2022551551A JP 2022551551 A JP2022551551 A JP 2022551551A JP 2022506030 A JP2022506030 A JP 2022506030A JP 2022506030 A JP2022506030 A JP 2022506030A JP 2022551551 A JP2022551551 A JP 2022551551A
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crrna
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オワサ テイタム，
ジ リー，
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ブラックホーク ジェノミクス エルエルシー
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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
    • C12Q1/6876—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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    • C12Q1/6811—Selection methods for production or design of target specific oligonucleotides or binding molecules
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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
    • C12Q1/6813—Hybridisation assays
    • C12Q1/6827—Hybridisation assays for detection of mutation or polymorphism
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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]
    • C—CHEMISTRY; METALLURGY
    • C12—BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
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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
    • C12Q1/6806—Preparing nucleic acids for analysis, e.g. for polymerase chain reaction [PCR] assay
    • C—CHEMISTRY; METALLURGY
    • C12—BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
    • C12Q—MEASURING OR TESTING PROCESSES INVOLVING ENZYMES, NUCLEIC ACIDS OR MICROORGANISMS; COMPOSITIONS OR TEST PAPERS THEREFOR; PROCESSES OF PREPARING SUCH COMPOSITIONS; CONDITION-RESPONSIVE CONTROL IN MICROBIOLOGICAL OR ENZYMOLOGICAL PROCESSES
    • 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
    • C12Q1/6858—Allele-specific amplification
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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
    • C—CHEMISTRY; METALLURGY
    • C12—BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
    • C12Q—MEASURING OR TESTING PROCESSES INVOLVING ENZYMES, NUCLEIC ACIDS OR MICROORGANISMS; COMPOSITIONS OR TEST PAPERS THEREFOR; PROCESSES OF PREPARING SUCH COMPOSITIONS; CONDITION-RESPONSIVE CONTROL IN MICROBIOLOGICAL OR ENZYMOLOGICAL PROCESSES
    • C12Q2600/00—Oligonucleotides characterized by their use
    • C12Q2600/156—Polymorphic or mutational markers

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  • Chemical & Material Sciences (AREA)
  • Life Sciences & Earth Sciences (AREA)
  • Organic Chemistry (AREA)
  • Proteomics, Peptides & Aminoacids (AREA)
  • Health & Medical Sciences (AREA)
  • Engineering & Computer Science (AREA)
  • Zoology (AREA)
  • Wood Science & Technology (AREA)
  • Analytical Chemistry (AREA)
  • Genetics & Genomics (AREA)
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  • Bioinformatics & Cheminformatics (AREA)
  • General Engineering & Computer Science (AREA)
  • General Health & Medical Sciences (AREA)
  • Biophysics (AREA)
  • Pathology (AREA)
  • Measuring Or Testing Involving Enzymes Or Micro-Organisms (AREA)
JP2022506030A 2019-10-11 2020-10-12 ロングリードシークエンシングを用いたゲノム構造バリアントの同定 Pending JP2022551551A (ja)

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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JP2022551551A true JP2022551551A (ja) 2022-12-12
JP2022551551A5 JP2022551551A5 (https=) 2023-10-19

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

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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
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
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
CN119662814B (zh) * 2025-02-20 2025-06-27 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

Citations (2)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
JP2017532042A (ja) * 2014-10-29 2017-11-02 １０エックス ゲノミクス，インコーポレイテッド 標的化核酸配列決定のための方法及び組成物
JP2018509896A (ja) * 2015-02-27 2018-04-12 フリューダイム・コーポレイション 高処理能力研究用の単一細胞核酸

Family Cites Families (2)

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Publication number Priority date Publication date Assignee Title
EP3633047B1 (en) * 2014-08-19 2022-12-28 Pacific Biosciences of California, Inc. Method of sequencing nucleic acids based on an enrichment of nucleic acids
KR102888521B1 (ko) * 2015-04-06 2025-11-19 더 보드 어브 트러스티스 어브 더 리랜드 스탠포드 주니어 유니버시티 Crispr/cas-매개 유전자 조절을 위한 화학적으로 변형된 가이드 rna

Patent Citations (2)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
JP2017532042A (ja) * 2014-10-29 2017-11-02 １０エックス ゲノミクス，インコーポレイテッド 標的化核酸配列決定のための方法及び組成物
JP2018509896A (ja) * 2015-02-27 2018-04-12 フリューダイム・コーポレイション 高処理能力研究用の単一細胞核酸

Non-Patent Citations (4)

* Cited by examiner, † Cited by third party
Title
"Amplification-free, CRISPR-Cas9 Targeted Enrichment and SMRT Sequencing of Repeat-Expansion Disease", BIORXIV, JPN6024050390, 16 October 2017 (2017-10-16), ISSN: 0005606978 *
"Targeted Nanopore Sequencing with Cas9 for studies of methylation, structual variants, and mutations", BIORXIV, JPN6024050389, 4 June 2019 (2019-06-04), ISSN: 0005606980 *
LABORATORY INVESTIGATION, vol. 100, JPN6024050392, 2020, pages 135 - 146, ISSN: 0005606979 *
PLOS ONE, vol. 14, no. 4, JPN6024050391, 18 April 2019 (2019-04-18), pages 0215441, ISSN: 0005482512 *

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EP4041916A1 (en) 2022-08-17
CN114555824A (zh) 2022-05-27
US20230028445A1 (en) 2023-01-26
WO2021072394A1 (en) 2021-04-15
EP4041916A4 (en) 2023-11-01

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