BR112014013562A2 - método, instruções de armazenamento por meio de armazenamento não transitório, e aparelho - Google Patents

método, instruções de armazenamento por meio de armazenamento não transitório, e aparelho

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Publication number
BR112014013562A2
BR112014013562A2 BR112014013562A BR112014013562A BR112014013562A2 BR 112014013562 A2 BR112014013562 A2 BR 112014013562A2 BR 112014013562 A BR112014013562 A BR 112014013562A BR 112014013562 A BR112014013562 A BR 112014013562A BR 112014013562 A2 BR112014013562 A2 BR 112014013562A2
Authority
BR
Brazil
Prior art keywords
assembled
storage
genetic sequence
sequencing readings
transient storage
Prior art date
Application number
BR112014013562A
Other languages
English (en)
Other versions
BR112014013562A8 (pt
Inventor
Chakrabarti Biswaroop
Singh Randeep
Kumar Subodh
Kumar Sunil
Original Assignee
Koninklijke Philips Nv
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 Koninklijke Philips Nv filed Critical Koninklijke Philips Nv
Publication of BR112014013562A8 publication Critical patent/BR112014013562A8/pt
Publication of BR112014013562A2 publication Critical patent/BR112014013562A2/pt

Links

Classifications

    • 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
    • G16B30/20—Sequence assembly
    • 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
    • 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
    • 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
    • G16B40/20—Supervised data analysis

Landscapes

  • Life Sciences & Earth Sciences (AREA)
  • Physics & Mathematics (AREA)
  • Engineering & Computer Science (AREA)
  • Health & Medical Sciences (AREA)
  • Medical Informatics (AREA)
  • Bioinformatics & Cheminformatics (AREA)
  • Spectroscopy & Molecular Physics (AREA)
  • Biophysics (AREA)
  • Bioinformatics & Computational Biology (AREA)
  • Biotechnology (AREA)
  • Evolutionary Biology (AREA)
  • General Health & Medical Sciences (AREA)
  • Theoretical Computer Science (AREA)
  • Proteomics, Peptides & Aminoacids (AREA)
  • Analytical Chemistry (AREA)
  • Chemical & Material Sciences (AREA)
  • Data Mining & Analysis (AREA)
  • Molecular Biology (AREA)
  • Artificial Intelligence (AREA)
  • Bioethics (AREA)
  • Computer Vision & Pattern Recognition (AREA)
  • Genetics & Genomics (AREA)
  • Databases & Information Systems (AREA)
  • Epidemiology (AREA)
  • Evolutionary Computation (AREA)
  • Public Health (AREA)
  • Software Systems (AREA)
  • Measuring Or Testing Involving Enzymes Or Micro-Organisms (AREA)
  • Management, Administration, Business Operations System, And Electronic Commerce (AREA)

Abstract

resumo método, instruções de armazenamento por meio de armazenamento não transitório, e aparelho meio de armazenamento não transitório armazenando uma sequência genética montada compreendendo leituras de sequenciamento alinhadas. um dispositivo de processamento eletrônico é configurado para realizar operações incluindo: identificação de uma possível variante de uma sequência genética montada; valores de cálculo de pelo menos uma propriedade de leitura, uma pluralidade de propriedades de leitura para leituras de sequenciamento da sequência genética montada; e ligação de uma possível variante condicionada aos valores calculados de pelo menos uma propriedade de leitura para leituras de sequenciamento da sequência genética montada que incluem a possível variante que atende um critério de aceitação. o dispositivo de processamento eletrônico pode ser configurado ainda para selecionar pelo menos uma região da sequência genética montada para validação com base em um critério de seleção não aleatória.
BR112014013562A 2011-12-08 2012-12-03 método, instruções de armazenamento por meio de armazenamento não transitório, e aparelho BR112014013562A2 (pt)

Applications Claiming Priority (3)

Application Number Priority Date Filing Date Title
US201161568336P 2011-12-08 2011-12-08
EP11193585.4A EP2602734A1 (en) 2011-12-08 2011-12-14 Robust variant identification and validation
PCT/IB2012/056911 WO2013084133A2 (en) 2011-12-08 2012-12-03 Robust variant identification and validation

Publications (2)

Publication Number Publication Date
BR112014013562A8 BR112014013562A8 (pt) 2017-06-13
BR112014013562A2 true BR112014013562A2 (pt) 2017-06-13

Family

ID=45445781

Family Applications (1)

Application Number Title Priority Date Filing Date
BR112014013562A BR112014013562A2 (pt) 2011-12-08 2012-12-03 método, instruções de armazenamento por meio de armazenamento não transitório, e aparelho

Country Status (7)

Country Link
US (1) US10607719B2 (pt)
EP (2) EP2602734A1 (pt)
JP (1) JP6141310B2 (pt)
CN (1) CN103975329B (pt)
BR (1) BR112014013562A2 (pt)
IN (1) IN2014CN04568A (pt)
WO (1) WO2013084133A2 (pt)

Families Citing this family (7)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
US10424395B2 (en) * 2015-03-27 2019-09-24 Sentieon Inc. Computation pipeline of single-pass multiple variant calls
JP2017016665A (ja) * 2015-07-03 2017-01-19 国立大学法人東北大学 配列のデータからの変異情報の選択方法、システム、及び、コンピュータプログラム
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
CN107451428B (zh) * 2017-08-02 2020-05-22 广东国盛医学科技有限公司 下一代测序中末端短串联序列的优化处理方法
CN107590362B (zh) * 2017-08-21 2019-12-06 武汉菲沙基因信息有限公司 一种基于长读序测序判断重叠组装正误的方法
AU2018375785A1 (en) * 2017-11-30 2019-12-12 Illumina, Inc. Validation methods and systems for sequence variant calls
CN108959853B (zh) * 2018-05-18 2020-01-17 广州金域医学检验中心有限公司 一种拷贝数变异的分析方法、分析装置、设备及存储介质

Family Cites Families (9)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
FR2763600B1 (fr) * 1997-05-20 1999-11-12 Genolife Procede de detection qualitative et quantitative d'alterations de l'adn et des ligands de ces alterations
US6714874B1 (en) * 2000-03-15 2004-03-30 Applera Corporation Method and system for the assembly of a whole genome using a shot-gun data set
US6376191B1 (en) * 2000-03-22 2002-04-23 Mergen, Ltd. Microarray-based analysis of polynucleotide sequence variations
US8364417B2 (en) * 2007-02-15 2013-01-29 454 Life Sciences Corporation System and method to correct out of phase errors in DNA sequencing data by use of a recursive algorithm
CN101131391B (zh) * 2006-08-24 2011-07-20 中国科学院上海药物研究所 基于分子亲电矢量和扩展支持向量机的基因毒性概率预测方法
EP2101275A1 (en) * 2008-03-10 2009-09-16 Koninklijke Philips Electronics N.V. Method for polynucleotide design and selection
US20110190657A1 (en) * 2009-08-10 2011-08-04 Carl Zeiss Meditec, Inc. Glaucoma combinatorial analysis
KR102218512B1 (ko) * 2010-05-25 2021-02-19 더 리젠츠 오브 더 유니버시티 오브 캘리포니아 Ｂａｍｂａｍ：고처리율 서열분석 데이터의 병렬 비교 분석
US9600625B2 (en) * 2012-04-23 2017-03-21 Bina Technologies, Inc. Systems and methods for processing nucleic acid sequence data

Also Published As

Publication number Publication date
US20140336999A1 (en) 2014-11-13
JP6141310B2 (ja) 2017-06-07
US10607719B2 (en) 2020-03-31
CN103975329A (zh) 2014-08-06
BR112014013562A8 (pt) 2017-06-13
WO2013084133A3 (en) 2013-08-08
JP2015501987A (ja) 2015-01-19
EP2602734A1 (en) 2013-06-12
CN103975329B (zh) 2018-06-26
EP2748749A2 (en) 2014-07-02
IN2014CN04568A (pt) 2015-09-18
WO2013084133A2 (en) 2013-06-13

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Legal Events

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B06F Objections, documents and/or translations needed after an examination request according [chapter 6.6 patent gazette]
B08F Application dismissed because of non-payment of annual fees [chapter 8.6 patent gazette]

Free format text: REFERENTE A 6A ANUIDADE.

B08K Patent lapsed as no evidence of payment of the annual fee has been furnished to inpi [chapter 8.11 patent gazette]

Free format text: EM VIRTUDE DO ARQUIVAMENTO PUBLICADO NA RPI 2494 DE 23-10-2018 E CONSIDERANDO AUSENCIA DE MANIFESTACAO DENTRO DOS PRAZOS LEGAIS, INFORMO QUE CABE SER MANTIDO O ARQUIVAMENTO DO PEDIDO DE PATENTE, CONFORME O DISPOSTO NO ARTIGO 12, DA RESOLUCAO 113/2013.

B350 Update of information on the portal [chapter 15.35 patent gazette]