JP7121440B1 - 多型座位の信号の信頼性値の算出方法 - Google Patents

多型座位の信号の信頼性値の算出方法 Download PDF

Info

Publication number
JP7121440B1
JP7121440B1 JP2022521759A JP2022521759A JP7121440B1 JP 7121440 B1 JP7121440 B1 JP 7121440B1 JP 2022521759 A JP2022521759 A JP 2022521759A JP 2022521759 A JP2022521759 A JP 2022521759A JP 7121440 B1 JP7121440 B1 JP 7121440B1
Authority
JP
Japan
Prior art keywords
nucleic acid
allele
component signal
primary
data set
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.)
Active
Application number
JP2022521759A
Other languages
English (en)
Japanese (ja)
Other versions
JPWO2022131328A5 (https=
JPWO2022131328A1 (https=
Inventor
起範 金
崇紀 杉元
Current Assignee (The listed assignees may be inaccurate. Google has not performed a legal analysis and makes no representation or warranty as to the accuracy of the list.)
Seedna
Original Assignee
Seedna
Priority date (The priority date 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 date listed.)
Filing date
Publication date
Application filed by Seedna filed Critical Seedna
Publication of JPWO2022131328A1 publication Critical patent/JPWO2022131328A1/ja
Application granted granted Critical
Publication of JP7121440B1 publication Critical patent/JP7121440B1/ja
Publication of JPWO2022131328A5 publication Critical patent/JPWO2022131328A5/ja
Active legal-status Critical Current
Anticipated expiration legal-status Critical

Links

Images

Classifications

    • 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
    • C12Q1/6851—Quantitative amplification
    • G—PHYSICS
    • G16—INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR SPECIFIC APPLICATION FIELDS
    • G16B—BIOINFORMATICS, i.e. INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR GENETIC OR PROTEIN-RELATED DATA PROCESSING IN COMPUTATIONAL MOLECULAR BIOLOGY
    • G16B40/00—ICT specially adapted for biostatistics; ICT specially adapted for bioinformatics-related machine learning or data mining, e.g. knowledge discovery or pattern finding
    • G16B40/10—Signal processing, e.g. from mass spectrometry [MS] or from PCR
    • 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
    • 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
    • C12Q1/686—Polymerase chain reaction [PCR]
    • 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
    • C12Q1/6869—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
    • 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
    • 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
    • C12Q1/6876—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
    • C12Q1/6886—Nucleic acid products used in the analysis of nucleic acids, e.g. primers or probes for diseases caused by alterations of genetic material for cancer
    • G—PHYSICS
    • G16—INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR SPECIFIC APPLICATION FIELDS
    • G16B—BIOINFORMATICS, i.e. INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR GENETIC OR PROTEIN-RELATED DATA PROCESSING IN COMPUTATIONAL MOLECULAR BIOLOGY
    • 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
    • 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
    • C12Q2531/00—Reactions of nucleic acids characterised by
    • C12Q2531/10—Reactions of nucleic acids characterised by the purpose being amplify/increase the copy number of target nucleic acid
    • C12Q2531/113—PCR
    • 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
    • G—PHYSICS
    • G16—INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR SPECIFIC APPLICATION FIELDS
    • G16B—BIOINFORMATICS, i.e. INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR GENETIC OR PROTEIN-RELATED DATA PROCESSING IN COMPUTATIONAL MOLECULAR BIOLOGY
    • G16B25/00—ICT specially adapted for hybridisation; ICT specially adapted for gene or protein expression
    • G16B25/20—Polymerase chain reaction [PCR]; Primer or probe design; Probe optimisation
    • G—PHYSICS
    • G16—INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR SPECIFIC APPLICATION FIELDS
    • G16B—BIOINFORMATICS, i.e. INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR GENETIC OR PROTEIN-RELATED DATA PROCESSING IN COMPUTATIONAL MOLECULAR BIOLOGY
    • G16B40/00—ICT specially adapted for biostatistics; ICT specially adapted for bioinformatics-related machine learning or data mining, e.g. knowledge discovery or pattern finding
    • G16B40/30—Unsupervised data analysis

Landscapes

  • Chemical & Material Sciences (AREA)
  • Life Sciences & Earth Sciences (AREA)
  • Health & Medical Sciences (AREA)
  • Engineering & Computer Science (AREA)
  • Organic Chemistry (AREA)
  • Proteomics, Peptides & Aminoacids (AREA)
  • Physics & Mathematics (AREA)
  • Wood Science & Technology (AREA)
  • Zoology (AREA)
  • Bioinformatics & Cheminformatics (AREA)
  • Analytical Chemistry (AREA)
  • Genetics & Genomics (AREA)
  • Biotechnology (AREA)
  • Biophysics (AREA)
  • Molecular Biology (AREA)
  • General Health & Medical Sciences (AREA)
  • Immunology (AREA)
  • General Engineering & Computer Science (AREA)
  • Biochemistry (AREA)
  • Microbiology (AREA)
  • Medical Informatics (AREA)
  • Spectroscopy & Molecular Physics (AREA)
  • Pathology (AREA)
  • Chemical Kinetics & Catalysis (AREA)
  • Bioinformatics & Computational Biology (AREA)
  • Theoretical Computer Science (AREA)
  • Evolutionary Biology (AREA)
  • Oncology (AREA)
  • Hospice & Palliative Care (AREA)
  • Databases & Information Systems (AREA)
  • Data Mining & Analysis (AREA)
  • Computer Vision & Pattern Recognition (AREA)
  • Epidemiology (AREA)
  • Evolutionary Computation (AREA)
  • Public Health (AREA)
  • Software Systems (AREA)
  • Bioethics (AREA)
  • Artificial Intelligence (AREA)
  • Signal Processing (AREA)
  • Measuring Or Testing Involving Enzymes Or Micro-Organisms (AREA)
JP2022521759A 2020-12-16 2021-12-16 多型座位の信号の信頼性値の算出方法 Active JP7121440B1 (ja)

Applications Claiming Priority (3)

Application Number Priority Date Filing Date Title
JP2020208554 2020-12-16
JP2020208554 2020-12-16
PCT/JP2021/046513 WO2022131328A1 (ja) 2020-12-16 2021-12-16 多型座位の信号の信頼性値の算出方法

Publications (3)

Publication Number Publication Date
JPWO2022131328A1 JPWO2022131328A1 (https=) 2022-06-23
JP7121440B1 true JP7121440B1 (ja) 2022-08-18
JPWO2022131328A5 JPWO2022131328A5 (https=) 2022-11-29

Family

ID=82059580

Family Applications (1)

Application Number Title Priority Date Filing Date
JP2022521759A Active JP7121440B1 (ja) 2020-12-16 2021-12-16 多型座位の信号の信頼性値の算出方法

Country Status (5)

Country Link
US (1) US20230227897A1 (https=)
EP (1) EP4266315A4 (https=)
JP (1) JP7121440B1 (https=)
KR (1) KR20230012033A (https=)
WO (1) WO2022131328A1 (https=)

Families Citing this family (1)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
JP7684727B2 (ja) * 2023-08-22 2025-05-28 株式会社seeDNA 非侵襲的出生前親子鑑定方法

Citations (2)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
JP2014502845A (ja) * 2010-12-22 2014-02-06 ナテラ， インコーポレイテッド 非侵襲性出生前親子鑑定法
JP2016034282A (ja) * 2011-02-24 2016-03-17 ザ チャイニーズ ユニバーシティー オブ ホンコンＴｈｅ Ｃｈｉｎｅｓｅ Ｕｎｉｖｅｒｓｉｔｙ Ｏｆ Ｈｏｎｇｋｏｎｇ 多胎妊娠の分子検査

Family Cites Families (7)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
RS57837B1 (sr) * 2011-04-12 2018-12-31 Verinata Health Inc Razrešavanje genomskih frakcija upotrebom broja kopija polimorfizama
WO2015164432A1 (en) * 2014-04-21 2015-10-29 Natera, Inc. Detecting mutations and ploidy in chromosomal segments
JP6415204B2 (ja) * 2014-09-19 2018-10-31 株式会社ケーヒン・サーマル・テクノロジー エバポレータおよびこれを用いた車両用空調装置
JP6520660B2 (ja) 2015-11-19 2019-05-29 株式会社デンソー 車両制御装置
KR101806663B1 (ko) 2016-02-11 2017-12-11 주식회사 로브아이 레이더 및 비디오 카메라 일체형 교통정보 측정시스템
CA3067419A1 (en) 2017-06-20 2018-12-27 Illumina, Inc. Methods and systems for decomposition and quantification of dna mixtures from multiple contributors of known or unknown genotypes
CN114026646A (zh) * 2019-05-20 2022-02-08 基金会医学公司 用于评估肿瘤分数的系统和方法

Patent Citations (2)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
JP2014502845A (ja) * 2010-12-22 2014-02-06 ナテラ， インコーポレイテッド 非侵襲性出生前親子鑑定法
JP2016034282A (ja) * 2011-02-24 2016-03-17 ザ チャイニーズ ユニバーシティー オブ ホンコンＴｈｅ Ｃｈｉｎｅｓｅ Ｕｎｉｖｅｒｓｉｔｙ Ｏｆ Ｈｏｎｇｋｏｎｇ 多胎妊娠の分子検査

Also Published As

Publication number Publication date
WO2022131328A1 (ja) 2022-06-23
US20230227897A1 (en) 2023-07-20
EP4266315A1 (en) 2023-10-25
JPWO2022131328A1 (https=) 2022-06-23
EP4266315A4 (en) 2024-11-20
KR20230012033A (ko) 2023-01-25

Similar Documents

Publication Publication Date Title
US12087401B2 (en) Using cell-free DNA fragment size to detect tumor-associated variant
CN104254618B (zh) 母体血浆中胎儿dna分数的基于大小的分析
ES2441807T5 (es) Diagnóstico de aneuploidía cromosómica fetal utilizando secuenciación genómica
US20190172582A1 (en) Methods and systems for determining somatic mutation clonality
JP7009516B2 (ja) 未知の遺伝子型の寄与体からのｄｎａ混合物の正確な計算による分解のための方法
US10745754B2 (en) Method for predicting congenital heart defect
KR20190077097A (ko) 서열 변이체 호출을 위한 검증 방법 및 시스템
KR101614471B1 (ko) 유전체 서열분석을 이용한 태아 염색체 이수성의 진단 방법 및 장치
Church et al. Investigating skewness to understand gene expression heterogeneity in large patient cohorts
CN121331226B (zh) 一种基于超高深度测序的微小残留病灶检测方法及系统
WO2024047977A1 (ja) ２種以上の検査を実施可能な遺伝学的解析方法
JP7121440B1 (ja) 多型座位の信号の信頼性値の算出方法
Watson et al. Evolutionary dynamics in the decades preceding acute myeloid leukaemia
CN117912560A (zh) 一种全基因组重测序分析方法及系统
Vasmatzis et al. Quantitating tissue specificity of human genes to facilitate biomarker discovery
Chong et al. SeqControl: process control for DNA sequencing
CN119252381B (zh) 基于生物标志物的腹膜后脂肪肉瘤分子分型方法、系统及设备
JP2023547610A (ja) 同一性を決定する又は汚染を検出するために遺伝子サンプルを処理するための方法及びシステム
Levy et al. Accurate measurement of microsatellite length by disrupting its tandem repeat structure
CN120998307B (zh) 基于hla基因的单细胞混样测序及样本拆分方法
Retnomawarti et al. The bioinformatics application in detecting germline and somatic variants towards breast cancer using next generation sequencing
Holesova et al. Telomere length as a biomarker for fetal fraction prediction in non-invasive prenatal testing
US20220380841A1 (en) Methods and Kits using Internal Standards to Control for Complexity of Next Generation Sequencing(NGS) Libraries
Thapa Non-Invasive Prenatal Testing (NIPT) by DNA Sequencing Method
Cabello-Aguilar et al. ifCNV: a novel isolation-forest-based package to detect copy number variations from various NGS datasets

Legal Events

Date Code Title Description
A521 Request for written amendment filed

Free format text: JAPANESE INTERMEDIATE CODE: A523

Effective date: 20220411

A621 Written request for application examination

Free format text: JAPANESE INTERMEDIATE CODE: A621

Effective date: 20220411

A871 Explanation of circumstances concerning accelerated examination

Free format text: JAPANESE INTERMEDIATE CODE: A871

Effective date: 20220411

A131 Notification of reasons for refusal

Free format text: JAPANESE INTERMEDIATE CODE: A131

Effective date: 20220510

A521 Request for written amendment filed

Free format text: JAPANESE INTERMEDIATE CODE: A523

Effective date: 20220511

TRDD Decision of grant or rejection written
A01 Written decision to grant a patent or to grant a registration (utility model)

Free format text: JAPANESE INTERMEDIATE CODE: A01

Effective date: 20220719

A61 First payment of annual fees (during grant procedure)

Free format text: JAPANESE INTERMEDIATE CODE: A61

Effective date: 20220729

R150 Certificate of patent or registration of utility model

Ref document number: 7121440

Country of ref document: JP

Free format text: JAPANESE INTERMEDIATE CODE: R150