BR112018011141A2 - método para detectar o gênero fetal e as anormalidades no número de cópias, aparelho e meio legível por computador para realizar o mesmo - Google Patents

método para detectar o gênero fetal e as anormalidades no número de cópias, aparelho e meio legível por computador para realizar o mesmo

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Publication number
BR112018011141A2
BR112018011141A2 BR112018011141A BR112018011141A BR112018011141A2 BR 112018011141 A2 BR112018011141 A2 BR 112018011141A2 BR 112018011141 A BR112018011141 A BR 112018011141A BR 112018011141 A BR112018011141 A BR 112018011141A BR 112018011141 A2 BR112018011141 A2 BR 112018011141A2
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BR
Brazil
Prior art keywords
copy number
variation
abnormalities
computer readable
determining
Prior art date
Application number
BR112018011141A
Other languages
English (en)
Inventor
Cho Eun-Hae
Jang Ja-Hyun
Lee Junnam
Lee Taeheon
Jeon Young-Joo
Original Assignee
Green Cross Genome Corp
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 Green Cross Genome Corp filed Critical Green Cross Genome Corp
Publication of BR112018011141A2 publication Critical patent/BR112018011141A2/pt

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    • 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
    • G16B20/10—Ploidy or copy number 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
    • 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
    • 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
    • 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
    • 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
    • G16B30/00—ICT specially adapted for sequence analysis involving nucleotides or amino acids
    • 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
    • G16B30/00—ICT specially adapted for sequence analysis involving nucleotides or amino acids
    • G16B30/10—Sequence alignment; Homology search
    • 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
    • G16B50/00—ICT programming tools or database systems specially adapted for bioinformatics
    • 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
    • C12Q2545/00—Reactions characterised by their quantitative nature
    • C12Q2545/10—Reactions characterised by their quantitative nature the purpose being quantitative analysis
    • C12Q2545/113—Reactions characterised by their quantitative nature the purpose being quantitative analysis with an external standard/control, i.e. control reaction is separated from the test/target reaction
    • 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

Landscapes

  • Life Sciences & Earth Sciences (AREA)
  • Health & Medical Sciences (AREA)
  • Physics & Mathematics (AREA)
  • Engineering & Computer Science (AREA)
  • Chemical & Material Sciences (AREA)
  • Bioinformatics & Cheminformatics (AREA)
  • Proteomics, Peptides & Aminoacids (AREA)
  • General Health & Medical Sciences (AREA)
  • Biophysics (AREA)
  • Biotechnology (AREA)
  • Analytical Chemistry (AREA)
  • Bioinformatics & Computational Biology (AREA)
  • Evolutionary Biology (AREA)
  • Medical Informatics (AREA)
  • Spectroscopy & Molecular Physics (AREA)
  • Theoretical Computer Science (AREA)
  • Genetics & Genomics (AREA)
  • Molecular Biology (AREA)
  • Organic Chemistry (AREA)
  • Wood Science & Technology (AREA)
  • Zoology (AREA)
  • Databases & Information Systems (AREA)
  • Pathology (AREA)
  • Immunology (AREA)
  • Microbiology (AREA)
  • Bioethics (AREA)
  • Biochemistry (AREA)
  • General Engineering & Computer Science (AREA)
  • Measuring Or Testing Involving Enzymes Or Micro-Organisms (AREA)
  • Investigating Or Analysing Biological Materials (AREA)

Abstract

método para detectar o gênero fetal e as anormalidades no número de cópias, aparelho e meio legível por computador para realizar o mesmo refere-se a invenção a um método, um aparelho e um meio legível, para determinar a variação do número de cópias em uma mistura de ácidos nucleicos, que se sabe ou se acredita serem diferentes em termos da quantidade de uma ou mais sequências alvo e mais particularmente a um método para determinar a variação do número de cópias, que compreende análise bioinformática e análise estatística, para analisar a variabilidade entre cromossomos e sequências. o método para determinar a variação de acordo com a presente invenção pode ser utilizado para a variação do número de cópias cromossômicas que está associada ou parece estar associada a doenças fetais. as variações no número de cópias cromossômicas que podem ser determinadas de acordo com o método da presente invenção podem incluir trissomia e monossomia de qualquer um ou mais de cromossomos 1-22, x e y, polissomia para a sequência de ácido nucleico de comprimento completo, e deleção e/ou duplicação de qualquer um ou mais fragmentos de sequência de cromossomos e, assim, o método da presente invenção é útil para a análise do gênero fetal e variação do número de cópias.
BR112018011141A 2015-12-04 2015-12-04 método para detectar o gênero fetal e as anormalidades no número de cópias, aparelho e meio legível por computador para realizar o mesmo BR112018011141A2 (pt)

Applications Claiming Priority (1)

Application Number Priority Date Filing Date Title
PCT/KR2015/013210 WO2017094941A1 (ko) 2015-12-04 2015-12-04 핵산의 혼합물을 포함하는 샘플에서 복제수 변이를 결정하는 방법

Publications (1)

Publication Number Publication Date
BR112018011141A2 true BR112018011141A2 (pt) 2018-11-21

Family

ID=58797019

Family Applications (1)

Application Number Title Priority Date Filing Date
BR112018011141A BR112018011141A2 (pt) 2015-12-04 2015-12-04 método para detectar o gênero fetal e as anormalidades no número de cópias, aparelho e meio legível por computador para realizar o mesmo

Country Status (6)

Country Link
US (1) US20180357366A1 (pt)
JP (1) JP2019500901A (pt)
CN (1) CN108475301A (pt)
BR (1) BR112018011141A2 (pt)
SG (1) SG11201804651XA (pt)
WO (1) WO2017094941A1 (pt)

Families Citing this family (4)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
CN109979529B (zh) * 2017-12-28 2021-01-08 北京安诺优达医学检验实验室有限公司 Cnv检测装置
CN109192246B (zh) * 2018-06-22 2020-10-16 深圳市达仁基因科技有限公司 检测染色体拷贝数异常的方法、装置和存储介质
US20230178182A1 (en) * 2019-08-19 2023-06-08 Green Cross Genome Corporation Method for detecting chromosomal abnormality by using information about distance between nucleic acid fragments
JP7099759B1 (ja) * 2021-03-08 2022-07-12 Ｖａｒｉｎｏｓ株式会社 ゲノム配列上のコピー数のバリアントの区切り点の候補の機械的検出

Family Cites Families (11)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
US20100112590A1 (en) * 2007-07-23 2010-05-06 The Chinese University Of Hong Kong Diagnosing Fetal Chromosomal Aneuploidy Using Genomic Sequencing With Enrichment
CA2786174A1 (en) * 2010-01-26 2011-08-04 Nipd Genetics Ltd Methods and compositions for noninvasive prenatal diagnosis of fetal aneuploidies
GB2484764B (en) * 2011-04-14 2012-09-05 Verinata Health Inc Normalizing chromosomes for the determination and verification of common and rare chromosomal aneuploidies
CN104120181B (zh) * 2011-06-29 2017-06-09 深圳华大基因股份有限公司 对染色体测序结果进行gc校正的方法及装置
EP2563937A1 (en) * 2011-07-26 2013-03-06 Verinata Health, Inc Method for determining the presence or absence of different aneuploidies in a sample
DK2768978T3 (en) * 2011-10-18 2017-12-18 Multiplicom Nv Fetal CHROMOSOMAL ANEUPLOIDID DIAGNOSIS
GB201215449D0 (en) * 2012-08-30 2012-10-17 Zoragen Biotechnologies Llp Method of detecting chromosonal abnormalities
EP3026124A1 (en) * 2012-10-31 2016-06-01 Genesupport SA Non-invasive method for detecting a fetal chromosomal aneuploidy
EP3543354B1 (en) * 2013-06-17 2022-01-19 Verinata Health, Inc. Method for generating a masked reference sequence of the y chromosome
KR102299305B1 (ko) * 2013-06-21 2021-09-06 시쿼넘, 인코포레이티드 유전적 변이의 비침습 평가를 위한 방법 및 프로세스
EP3598452B1 (en) * 2014-05-30 2023-07-26 Sequenom, Inc. Chromosome representation determinations

Also Published As

Publication number Publication date
SG11201804651XA (en) 2018-07-30
US20180357366A1 (en) 2018-12-13
WO2017094941A1 (ko) 2017-06-08
JP2019500901A (ja) 2019-01-17
CN108475301A (zh) 2018-08-31

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