MX2021012019A - Deteccion rapida de fusiones genicas. - Google Patents
Deteccion rapida de fusiones genicas.Info
- Publication number
- MX2021012019A MX2021012019A MX2021012019A MX2021012019A MX2021012019A MX 2021012019 A MX2021012019 A MX 2021012019A MX 2021012019 A MX2021012019 A MX 2021012019A MX 2021012019 A MX2021012019 A MX 2021012019A MX 2021012019 A MX2021012019 A MX 2021012019A
- Authority
- MX
- Mexico
- Prior art keywords
- fusion
- data
- candidates
- input
- candidate
- Prior art date
Links
Classifications
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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
-
- G—PHYSICS
- G06—COMPUTING; CALCULATING OR COUNTING
- G06F—ELECTRIC DIGITAL DATA PROCESSING
- G06F18/00—Pattern recognition
- G06F18/20—Analysing
- G06F18/25—Fusion techniques
- G06F18/251—Fusion techniques of input or preprocessed data
-
- G—PHYSICS
- G06—COMPUTING; CALCULATING OR COUNTING
- G06N—COMPUTING ARRANGEMENTS BASED ON SPECIFIC COMPUTATIONAL MODELS
- G06N20/00—Machine learning
-
- G—PHYSICS
- G06—COMPUTING; CALCULATING OR COUNTING
- G06N—COMPUTING ARRANGEMENTS BASED ON SPECIFIC COMPUTATIONAL MODELS
- G06N3/00—Computing arrangements based on biological models
- G06N3/02—Neural networks
- G06N3/08—Learning methods
-
- 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
- Engineering & Computer Science (AREA)
- Physics & Mathematics (AREA)
- Life Sciences & Earth Sciences (AREA)
- Theoretical Computer Science (AREA)
- Health & Medical Sciences (AREA)
- Medical Informatics (AREA)
- Bioinformatics & Cheminformatics (AREA)
- General Health & Medical Sciences (AREA)
- Biophysics (AREA)
- Bioinformatics & Computational Biology (AREA)
- Evolutionary Biology (AREA)
- Data Mining & Analysis (AREA)
- Biotechnology (AREA)
- Spectroscopy & Molecular Physics (AREA)
- Software Systems (AREA)
- Evolutionary Computation (AREA)
- Artificial Intelligence (AREA)
- Proteomics, Peptides & Aminoacids (AREA)
- Analytical Chemistry (AREA)
- Chemical & Material Sciences (AREA)
- Computer Vision & Pattern Recognition (AREA)
- General Engineering & Computer Science (AREA)
- General Physics & Mathematics (AREA)
- Molecular Biology (AREA)
- Mathematical Physics (AREA)
- Computing Systems (AREA)
- Bioethics (AREA)
- Public Health (AREA)
- Epidemiology (AREA)
- Databases & Information Systems (AREA)
- Biomedical Technology (AREA)
- Computational Linguistics (AREA)
- Genetics & Genomics (AREA)
- Measuring Or Testing Involving Enzymes Or Micro-Organisms (AREA)
- Apparatus Associated With Microorganisms And Enzymes (AREA)
Abstract
Se describen métodos, sistemas y aparatos, que incluyen programas informáticos para identificar una fusión génica en una muestra biológica. El método puede incluir acciones para obtener primeros datos que representan una pluralidad de lecturas alineadas, identificar una pluralidad de candidatos a fusión incluidos dentro de los primeros datos obtenidos, filtrar la pluralidad de candidatos a fusión para determinar un conjunto filtrado de candidatos a fusión, para cada candidato particular a fusión del conjunto filtrado de candidatos a fusión: generar, mediante una o más computadoras, datos de entrada para entrada a un modelo de aprendizaje automático que incluye datos de características extraídos para representar el candidato particular a fusión, proporcionar los datos de entrada generados como una entrada al modelo de aprendizaje automático que se ha entrenado para generar datos de salida que representan una probabilidad de que un candidato a fusión sea una fusión génica válida, y determinar si el candidato particular a fusión corresponde a una fusión génica válida basada en los datos de salida.
Applications Claiming Priority (2)
| Application Number | Priority Date | Filing Date | Title |
|---|---|---|---|
| US201962944304P | 2019-12-05 | 2019-12-05 | |
| PCT/US2020/063496 WO2021113779A1 (en) | 2019-12-05 | 2020-12-04 | Rapid detection of gene fusions |
Publications (1)
| Publication Number | Publication Date |
|---|---|
| MX2021012019A true MX2021012019A (es) | 2021-10-26 |
Family
ID=74004162
Family Applications (1)
| Application Number | Title | Priority Date | Filing Date |
|---|---|---|---|
| MX2021012019A MX2021012019A (es) | 2019-12-05 | 2020-12-04 | Deteccion rapida de fusiones genicas. |
Country Status (12)
| Country | Link |
|---|---|
| US (1) | US20210193254A1 (es) |
| EP (1) | EP4070320A1 (es) |
| JP (1) | JP2023503739A (es) |
| KR (1) | KR20220107117A (es) |
| CN (1) | CN113574603A (es) |
| AU (1) | AU2020398180A1 (es) |
| BR (1) | BR112021018933A2 (es) |
| CA (1) | CA3131487A1 (es) |
| IL (1) | IL286129A (es) |
| MX (1) | MX2021012019A (es) |
| SG (1) | SG11202109079YA (es) |
| WO (1) | WO2021113779A1 (es) |
Families Citing this family (2)
| Publication number | Priority date | Publication date | Assignee | Title |
|---|---|---|---|---|
| WO2024086499A1 (en) * | 2022-10-17 | 2024-04-25 | University Of Washington | Systems and methods for detecting fusion genes from sequencing data |
| CN115662520B (zh) * | 2022-10-27 | 2023-04-14 | 黑龙江金域医学检验实验室有限公司 | Bcr/abl1融合基因的检测方法及相关设备 |
Family Cites Families (10)
| Publication number | Priority date | Publication date | Assignee | Title |
|---|---|---|---|---|
| US20160019340A1 (en) * | 2014-07-18 | 2016-01-21 | Life Technologies Corporation | Systems and methods for detecting structural variants |
| BR112017007282A2 (pt) * | 2014-10-10 | 2018-06-19 | Invitae Corp | métodos, sistemas e processos de montagem de novo de leituras de sequenciamento |
| US10354747B1 (en) * | 2016-05-06 | 2019-07-16 | Verily Life Sciences Llc | Deep learning analysis pipeline for next generation sequencing |
| BR112019009830A2 (pt) * | 2016-11-16 | 2019-08-13 | Illumina Inc | métodos para realinhamento de leitura de dados de sequenciamento |
| US10964410B2 (en) * | 2017-05-25 | 2021-03-30 | Koninklijke Philips N.V. | System and method for detecting gene fusion |
| EP3639173A1 (en) * | 2017-06-12 | 2020-04-22 | Grail, Inc. | Alignment free filtering for identifying fusions |
| CN107267646A (zh) * | 2017-08-02 | 2017-10-20 | 广东国盛医学科技有限公司 | 一种基于下一代测序的多基因融合检测方法 |
| US20200105373A1 (en) * | 2018-09-28 | 2020-04-02 | 10X Genomics, Inc. | Systems and methods for cellular analysis using nucleic acid sequencing |
| JP7462632B2 (ja) * | 2018-11-30 | 2024-04-05 | カリス エムピーアイ インコーポレイテッド | 次世代分子プロファイリング |
| CN110322925B (zh) * | 2019-07-18 | 2021-09-03 | 杭州纽安津生物科技有限公司 | 一种预测融合基因产生新生抗原的方法 |
-
2020
- 2020-12-04 WO PCT/US2020/063496 patent/WO2021113779A1/en unknown
- 2020-12-04 CN CN202080021779.9A patent/CN113574603A/zh active Pending
- 2020-12-04 EP EP20829259.9A patent/EP4070320A1/en active Pending
- 2020-12-04 JP JP2021557678A patent/JP2023503739A/ja active Pending
- 2020-12-04 KR KR1020217031225A patent/KR20220107117A/ko unknown
- 2020-12-04 MX MX2021012019A patent/MX2021012019A/es unknown
- 2020-12-04 CA CA3131487A patent/CA3131487A1/en active Pending
- 2020-12-04 US US17/112,956 patent/US20210193254A1/en active Pending
- 2020-12-04 BR BR112021018933A patent/BR112021018933A2/pt unknown
- 2020-12-04 SG SG11202109079YA patent/SG11202109079YA/en unknown
- 2020-12-04 AU AU2020398180A patent/AU2020398180A1/en active Pending
-
2021
- 2021-09-05 IL IL286129A patent/IL286129A/en unknown
Also Published As
| Publication number | Publication date |
|---|---|
| SG11202109079YA (en) | 2021-09-29 |
| EP4070320A1 (en) | 2022-10-12 |
| IL286129A (en) | 2021-10-31 |
| WO2021113779A1 (en) | 2021-06-10 |
| CA3131487A1 (en) | 2021-06-10 |
| AU2020398180A1 (en) | 2021-09-16 |
| US20210193254A1 (en) | 2021-06-24 |
| KR20220107117A (ko) | 2022-08-02 |
| BR112021018933A2 (pt) | 2022-06-21 |
| JP2023503739A (ja) | 2023-02-01 |
| CN113574603A (zh) | 2021-10-29 |
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