BR112017007282A2 - métodos, sistemas e processos de montagem de novo de leituras de sequenciamento - Google Patents
métodos, sistemas e processos de montagem de novo de leituras de sequenciamentoInfo
- Publication number
- BR112017007282A2 BR112017007282A2 BR112017007282A BR112017007282A BR112017007282A2 BR 112017007282 A2 BR112017007282 A2 BR 112017007282A2 BR 112017007282 A BR112017007282 A BR 112017007282A BR 112017007282 A BR112017007282 A BR 112017007282A BR 112017007282 A2 BR112017007282 A2 BR 112017007282A2
- Authority
- BR
- Brazil
- Prior art keywords
- systems
- sequencing reads
- assembly processes
- new assembly
- methods
- Prior art date
Links
- 238000000034 method Methods 0.000 title 2
- 238000012163 sequencing technique Methods 0.000 title 1
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
- 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
- G16B30/00—ICT specially adapted for sequence analysis involving nucleotides or amino acids
- G16B30/20—Sequence assembly
Landscapes
- Life Sciences & Earth Sciences (AREA)
- Physics & Mathematics (AREA)
- Bioinformatics & Cheminformatics (AREA)
- Health & Medical Sciences (AREA)
- Engineering & Computer Science (AREA)
- Biotechnology (AREA)
- Medical Informatics (AREA)
- Biophysics (AREA)
- Theoretical Computer Science (AREA)
- Spectroscopy & Molecular Physics (AREA)
- Proteomics, Peptides & Aminoacids (AREA)
- Bioinformatics & Computational Biology (AREA)
- Chemical & Material Sciences (AREA)
- Evolutionary Biology (AREA)
- General Health & Medical Sciences (AREA)
- Analytical Chemistry (AREA)
- Molecular Biology (AREA)
- Genetics & Genomics (AREA)
- Measuring Or Testing Involving Enzymes Or Micro-Organisms (AREA)
Applications Claiming Priority (2)
| Application Number | Priority Date | Filing Date | Title |
|---|---|---|---|
| US201462062636P | 2014-10-10 | 2014-10-10 | |
| PCT/IB2015/057716 WO2016055971A2 (en) | 2014-10-10 | 2015-10-09 | Methods, systems and processes of de novo assembly of sequencing reads |
Publications (1)
| Publication Number | Publication Date |
|---|---|
| BR112017007282A2 true BR112017007282A2 (pt) | 2018-06-19 |
Family
ID=55653914
Family Applications (1)
| Application Number | Title | Priority Date | Filing Date |
|---|---|---|---|
| BR112017007282A BR112017007282A2 (pt) | 2014-10-10 | 2015-10-09 | métodos, sistemas e processos de montagem de novo de leituras de sequenciamento |
Country Status (8)
| Country | Link |
|---|---|
| US (1) | US20190244678A1 (https=) |
| EP (1) | EP3204522A4 (https=) |
| JP (1) | JP6762932B2 (https=) |
| CN (1) | CN106795568A (https=) |
| BR (1) | BR112017007282A2 (https=) |
| CA (1) | CA2963868A1 (https=) |
| IL (1) | IL251277B (https=) |
| WO (1) | WO2016055971A2 (https=) |
Families Citing this family (16)
| Publication number | Priority date | Publication date | Assignee | Title |
|---|---|---|---|---|
| US10395759B2 (en) | 2015-05-18 | 2019-08-27 | Regeneron Pharmaceuticals, Inc. | Methods and systems for copy number variant detection |
| US12071669B2 (en) | 2016-02-12 | 2024-08-27 | Regeneron Pharmaceuticals, Inc. | Methods and systems for detection of abnormal karyotypes |
| WO2018057775A1 (en) * | 2016-09-22 | 2018-03-29 | Invitae Corporation | Methods, systems and processes of identifying genetic variations |
| WO2019028189A2 (en) * | 2017-08-01 | 2019-02-07 | Human Longevity, Inc. | DETERMINING THE STR LENGTH BY SHORT READ SEQUENCING |
| US11728007B2 (en) | 2017-11-30 | 2023-08-15 | Grail, Llc | Methods and systems for analyzing nucleic acid sequences using mappability analysis and de novo sequence assembly |
| JP7361774B2 (ja) * | 2018-07-27 | 2023-10-16 | ミリアド・ウィメンズ・ヘルス・インコーポレーテッド | シーケンスリードの独立したアラインメントおよびペアリングによって高度に相同なシーケンスにおける遺伝的変異を検出するための方法 |
| EP3853763A1 (en) * | 2018-09-20 | 2021-07-28 | Aivf Ltd | Image feature detection |
| BR112020026259A2 (pt) * | 2018-11-01 | 2021-07-27 | Illumina, Inc. | métodos e composições para detecção de variante de linhagem germinativa |
| CN113557572B (zh) * | 2019-01-25 | 2025-02-07 | 加利福尼亚太平洋生物科学股份有限公司 | 基于图的映射核酸片段的系统和方法 |
| CN110060734B (zh) * | 2019-03-29 | 2021-08-13 | 天津大学 | 一种高鲁棒性dna测序用条形码生成和读取方法 |
| SG11202109079YA (en) * | 2019-12-05 | 2021-09-29 | Illumina Inc | Rapid detection of gene fusions |
| US12093803B2 (en) * | 2020-07-01 | 2024-09-17 | International Business Machines Corporation | Downsampling genomic sequence data |
| CA3184609A1 (en) * | 2020-12-11 | 2022-06-16 | Illumina Inc. | Methods and systems for visualizing short reads in repetitive regions of the genome |
| US20240117445A1 (en) * | 2021-03-16 | 2024-04-11 | University Of North Texas Health Science Center At Fort Worth | Macrohaplotypes for Forensic DNA Mixture Deconvolution |
| CN115938480B (zh) * | 2021-09-23 | 2026-03-13 | 武汉华大基因技术服务有限公司 | 长读长测序对基因组组装结果纠错方法优化装置和系统 |
| CN118380052B (zh) * | 2024-06-24 | 2024-09-17 | 安诺优达基因科技(北京)有限公司 | 基因组结构预测的方法及电子装置 |
Family Cites Families (8)
| Publication number | Priority date | Publication date | Assignee | Title |
|---|---|---|---|---|
| US8383345B2 (en) * | 2008-09-12 | 2013-02-26 | University Of Washington | Sequence tag directed subassembly of short sequencing reads into long sequencing reads |
| EP2511843B1 (en) * | 2009-04-29 | 2016-12-21 | Complete Genomics, Inc. | Method and system for calling variations in a sample polynucleotide sequence with respect to a reference polynucleotide sequence |
| US20110257889A1 (en) * | 2010-02-24 | 2011-10-20 | Pacific Biosciences Of California, Inc. | Sequence assembly and consensus sequence determination |
| WO2012177774A2 (en) * | 2011-06-21 | 2012-12-27 | Life Technologies Corporation | Systems and methods for hybrid assembly of nucleic acid sequences |
| WO2013103759A2 (en) * | 2012-01-04 | 2013-07-11 | Dow Agrosciences Llc | Haplotype based pipeline for snp discovery and/or classification |
| US9916416B2 (en) * | 2012-10-18 | 2018-03-13 | Virginia Tech Intellectual Properties, Inc. | System and method for genotyping using informed error profiles |
| CN103258145B (zh) * | 2012-12-22 | 2016-06-29 | 中国科学院深圳先进技术研究院 | 一种基于De Bruijn图的并行基因拼接方法 |
| CN103761453B (zh) * | 2013-12-09 | 2017-10-27 | 天津工业大学 | 一种基于簇图结构的并行基因拼接方法 |
-
2015
- 2015-10-09 WO PCT/IB2015/057716 patent/WO2016055971A2/en not_active Ceased
- 2015-10-09 EP EP15849440.1A patent/EP3204522A4/en not_active Withdrawn
- 2015-10-09 BR BR112017007282A patent/BR112017007282A2/pt not_active IP Right Cessation
- 2015-10-09 CN CN201580054801.9A patent/CN106795568A/zh active Pending
- 2015-10-09 JP JP2017518960A patent/JP6762932B2/ja not_active Expired - Fee Related
- 2015-10-09 US US15/513,374 patent/US20190244678A1/en not_active Abandoned
- 2015-10-09 CA CA2963868A patent/CA2963868A1/en not_active Abandoned
-
2017
- 2017-03-20 IL IL251277A patent/IL251277B/en active IP Right Grant
Also Published As
| Publication number | Publication date |
|---|---|
| JP2018500625A (ja) | 2018-01-11 |
| IL251277A0 (en) | 2017-05-29 |
| JP6762932B2 (ja) | 2020-09-30 |
| CN106795568A (zh) | 2017-05-31 |
| WO2016055971A2 (en) | 2016-04-14 |
| CA2963868A1 (en) | 2016-04-14 |
| IL251277B (en) | 2020-08-31 |
| EP3204522A2 (en) | 2017-08-16 |
| EP3204522A4 (en) | 2018-06-20 |
| US20190244678A1 (en) | 2019-08-08 |
| WO2016055971A3 (en) | 2016-06-02 |
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Legal Events
| Date | Code | Title | Description |
|---|---|---|---|
| B06F | Objections, documents and/or translations needed after an examination request according [chapter 6.6 patent gazette] | ||
| B06U | Preliminary requirement: requests with searches performed by other patent offices: procedure suspended [chapter 6.21 patent gazette] | ||
| B08F | Application dismissed because of non-payment of annual fees [chapter 8.6 patent gazette] |
Free format text: REFERENTE A 7A 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: REFERENTE AO DESPACHO 8.6 PUBLICADO NA RPI 2703 DE 25/10/2022. |