MX2020012672A - Sistema y metodo para interpretacion de alelos usando un genoma de referencia basado en graficos. - Google Patents
Sistema y metodo para interpretacion de alelos usando un genoma de referencia basado en graficos.Info
- Publication number
- MX2020012672A MX2020012672A MX2020012672A MX2020012672A MX2020012672A MX 2020012672 A MX2020012672 A MX 2020012672A MX 2020012672 A MX2020012672 A MX 2020012672A MX 2020012672 A MX2020012672 A MX 2020012672A MX 2020012672 A MX2020012672 A MX 2020012672A
- Authority
- MX
- Mexico
- Prior art keywords
- reference genome
- allele
- version
- graph
- location
- Prior art date
Links
- 108700028369 Alleles Proteins 0.000 title abstract 6
- 238000000034 method Methods 0.000 title abstract 2
- 238000013507 mapping Methods 0.000 abstract 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
- G16B45/00—ICT specially adapted for bioinformatics-related data visualisation, e.g. displaying of maps or networks
-
- 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
- Physics & Mathematics (AREA)
- Life Sciences & Earth Sciences (AREA)
- Engineering & Computer Science (AREA)
- General Health & Medical Sciences (AREA)
- Spectroscopy & Molecular Physics (AREA)
- Health & Medical Sciences (AREA)
- Bioinformatics & Cheminformatics (AREA)
- Bioinformatics & Computational Biology (AREA)
- Biotechnology (AREA)
- Evolutionary Biology (AREA)
- Biophysics (AREA)
- Medical Informatics (AREA)
- Theoretical Computer Science (AREA)
- Chemical & Material Sciences (AREA)
- Analytical Chemistry (AREA)
- Proteomics, Peptides & Aminoacids (AREA)
- Data Mining & Analysis (AREA)
- Measuring Or Testing Involving Enzymes Or Micro-Organisms (AREA)
- Management, Administration, Business Operations System, And Electronic Commerce (AREA)
- Information Retrieval, Db Structures And Fs Structures Therefor (AREA)
Abstract
Un método (100) para generar un genoma de referencia basado en gráficos, que comprende: (i) recibir (120) una o más versiones más antiguas de un genoma de referencia actual, cada una comprende una pluralidad de nodos que identifican la versión del genoma de referencia y una ubicación dentro de esa versión para el nodo respectivo; (ii) alinear (130) cada versión más antigua del genoma de referencia con el genoma de referencia actual para generar un genoma de referencia basado en gráficos, en donde la alineación está basada en la información de ubicación; (iii) extraer (140), de un cuerpo de referencias, un alelo e información contextual asociada con el alelo, en donde la referencia respectiva identifica la versión del genoma de referencia y una ubicación del alelo dentro de la versión; y (iv) mapear (150) el alelo y la información contextual asociada en un nodo del genoma de referencia basado en gráficos, basado en la versión identificada del genoma de referencia y la ubicación del alelo extraído dentro de esa versión.
Applications Claiming Priority (2)
| Application Number | Priority Date | Filing Date | Title |
|---|---|---|---|
| US201862678324P | 2018-05-31 | 2018-05-31 | |
| PCT/EP2019/062905 WO2019228833A1 (en) | 2018-05-31 | 2019-05-20 | System and method for allele interpretation using a graph-based reference genome |
Publications (1)
| Publication Number | Publication Date |
|---|---|
| MX2020012672A true MX2020012672A (es) | 2021-02-09 |
Family
ID=66647388
Family Applications (1)
| Application Number | Title | Priority Date | Filing Date |
|---|---|---|---|
| MX2020012672A MX2020012672A (es) | 2018-05-31 | 2019-05-20 | Sistema y metodo para interpretacion de alelos usando un genoma de referencia basado en graficos. |
Country Status (7)
| Country | Link |
|---|---|
| US (1) | US20210158902A1 (es) |
| EP (1) | EP3803881A1 (es) |
| JP (1) | JP7428660B2 (es) |
| CN (1) | CN112236824A (es) |
| BR (1) | BR112020024028A2 (es) |
| MX (1) | MX2020012672A (es) |
| WO (1) | WO2019228833A1 (es) |
Families Citing this family (2)
| Publication number | Priority date | Publication date | Assignee | Title |
|---|---|---|---|---|
| EP3616103A1 (en) * | 2017-04-27 | 2020-03-04 | Koninklijke Philips N.V. | Interactive precision medicine explorer for genomic abberations and treatment options |
| CN111028897B (zh) * | 2019-12-13 | 2023-06-20 | 内蒙古农业大学 | 一种基于Hadoop的基因组索引构建的分布式并行计算方法 |
Family Cites Families (13)
| Publication number | Priority date | Publication date | Assignee | Title |
|---|---|---|---|---|
| US9898575B2 (en) * | 2013-08-21 | 2018-02-20 | Seven Bridges Genomics Inc. | Methods and systems for aligning sequences |
| KR20160107237A (ko) | 2014-01-10 | 2016-09-13 | 세븐 브릿지스 지노믹스 인크. | 판독물 맵핑에서 알려진 대립 유전자의 사용을 위한 시스템 및 방법 |
| EP4156194A1 (en) * | 2014-01-14 | 2023-03-29 | Fabric Genomics, Inc. | Methods and systems for genome analysis |
| WO2015146852A1 (ja) * | 2014-03-24 | 2015-10-01 | 株式会社 東芝 | 基準ゲノムデータを生成する方法、装置及びプログラム、差分ゲノムデータを生成する方法、装置及びプログラム、データを復元する方法、装置及びプログラム |
| WO2016081866A1 (en) | 2014-11-21 | 2016-05-26 | Research Institute At Nationwide Children's Hospital | Parallel-processing systems and methods for highly scalable analysis of biological sequence data |
| AU2016301354B2 (en) | 2015-08-06 | 2022-06-30 | Arc Bio, Llc | Systems and methods for genomic analysis |
| US10584380B2 (en) | 2015-09-01 | 2020-03-10 | Seven Bridges Genomics Inc. | Systems and methods for mitochondrial analysis |
| US20170199960A1 (en) * | 2016-01-07 | 2017-07-13 | Seven Bridges Genomics Inc. | Systems and methods for adaptive local alignment for graph genomes |
| US10262102B2 (en) * | 2016-02-24 | 2019-04-16 | Seven Bridges Genomics Inc. | Systems and methods for genotyping with graph reference |
| EP3439547A4 (en) | 2016-04-07 | 2019-08-28 | White Anvil Innovations, LLC | METHOD FOR ANALYZING DIGITAL DATA |
| US11289177B2 (en) * | 2016-08-08 | 2022-03-29 | Seven Bridges Genomics, Inc. | Computer method and system of identifying genomic mutations using graph-based local assembly |
| PE20191058A1 (es) * | 2016-10-11 | 2019-08-06 | Genomsys Sa | Metodo y sistema para el acceso selectivo de datos bioinformaticos almacenados o transmitidos |
| US10319465B2 (en) * | 2016-11-16 | 2019-06-11 | Seven Bridges Genomics Inc. | Systems and methods for aligning sequences to graph references |
-
2019
- 2019-05-20 US US17/058,171 patent/US20210158902A1/en active Pending
- 2019-05-20 MX MX2020012672A patent/MX2020012672A/es unknown
- 2019-05-20 WO PCT/EP2019/062905 patent/WO2019228833A1/en not_active Ceased
- 2019-05-20 CN CN201980036515.8A patent/CN112236824A/zh active Pending
- 2019-05-20 EP EP19726354.4A patent/EP3803881A1/en not_active Withdrawn
- 2019-05-20 BR BR112020024028-1A patent/BR112020024028A2/pt not_active IP Right Cessation
- 2019-05-20 JP JP2020560925A patent/JP7428660B2/ja active Active
Also Published As
| Publication number | Publication date |
|---|---|
| JP2021525407A (ja) | 2021-09-24 |
| CN112236824A (zh) | 2021-01-15 |
| WO2019228833A1 (en) | 2019-12-05 |
| BR112020024028A2 (pt) | 2021-02-23 |
| EP3803881A1 (en) | 2021-04-14 |
| US20210158902A1 (en) | 2021-05-27 |
| JP7428660B2 (ja) | 2024-02-06 |
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