MX2017004978A - Modelos de formacion de fases de haplotipo. - Google Patents
Modelos de formacion de fases de haplotipo.Info
- Publication number
- MX2017004978A MX2017004978A MX2017004978A MX2017004978A MX2017004978A MX 2017004978 A MX2017004978 A MX 2017004978A MX 2017004978 A MX2017004978 A MX 2017004978A MX 2017004978 A MX2017004978 A MX 2017004978A MX 2017004978 A MX2017004978 A MX 2017004978A
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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
- G16B5/00—ICT specially adapted for modelling or simulations in systems biology, e.g. gene-regulatory networks, protein interaction networks or metabolic networks
- G16B5/20—Probabilistic models
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- G—PHYSICS
- G06—COMPUTING; CALCULATING OR COUNTING
- G06F—ELECTRIC DIGITAL DATA PROCESSING
- G06F17/00—Digital computing or data processing equipment or methods, specially adapted for specific functions
- G06F17/10—Complex mathematical operations
- G06F17/18—Complex mathematical operations for evaluating statistical data, e.g. average values, frequency distributions, probability functions, regression analysis
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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
- G16B20/20—Allele or variant detection, e.g. single nucleotide polymorphism [SNP] detection
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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
- 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
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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
- 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
-
- 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
- G16B40/30—Unsupervised data analysis
-
- 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
- G16B5/00—ICT specially adapted for modelling or simulations in systems biology, e.g. gene-regulatory networks, protein interaction networks or metabolic 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
- G16B20/00—ICT specially adapted for functional genomics or proteomics, e.g. genotype-phenotype associations
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- Life Sciences & Earth Sciences (AREA)
- Health & Medical Sciences (AREA)
- Bioinformatics & Cheminformatics (AREA)
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- Evolutionary Computation (AREA)
- Artificial Intelligence (AREA)
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- General Physics & Mathematics (AREA)
- Probability & Statistics with Applications (AREA)
- Proteomics, Peptides & Aminoacids (AREA)
- Genetics & Genomics (AREA)
- Analytical Chemistry (AREA)
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- Pure & Applied Mathematics (AREA)
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- General Engineering & Computer Science (AREA)
- Operations Research (AREA)
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- Measuring Or Testing Involving Enzymes Or Micro-Organisms (AREA)
- Information Retrieval, Db Structures And Fs Structures Therefor (AREA)
Abstract
Los modelos Markov en grupo de haplotipo novedosos se usan para muestras genómicas de fase. Después de que se construyen los modelos, estos rápidamente y exactamente hacen fases de nuevas muestras sin requerir que las muestras nuevas se usen para reconstruir los modelos. Los modelos ajustan las probabilidades de transición de manera que la probabilidad para una aparición de cualquier alelo dentro de cualquier haplotipo es un número que no es cero. Adicionalmente, los pares de haplotipos más improbables se descartan de cada modelo en cada nivel hasta que de la masa de probabilidad en cada nivel se descarta. Los modelos también se construyen de tal manera que las ventanas de contribución de SNPs parcialmente se traslapan de manera que las decisiones de separación de fases cerca de uno de los bordes de extremo de cualquier modelo no son determinantes importantes de la fase. Adicionalmente, los modelos se configuran de tal manera que dos o más nodos pueden fusionarse durante el procedimiento de construcción/actualización para consolidar grupos de haplotipo que tienen distribuciones similares.
Applications Claiming Priority (3)
Application Number | Priority Date | Filing Date | Title |
---|---|---|---|
US201462065557P | 2014-10-17 | 2014-10-17 | |
US201462065726P | 2014-10-19 | 2014-10-19 | |
PCT/US2015/056164 WO2016061568A1 (en) | 2014-10-17 | 2015-10-19 | Haplotype phasing models |
Publications (1)
Publication Number | Publication Date |
---|---|
MX2017004978A true MX2017004978A (es) | 2017-09-13 |
Family
ID=55747474
Family Applications (2)
Application Number | Title | Priority Date | Filing Date |
---|---|---|---|
MX2017004980A MX2017004980A (es) | 2014-10-17 | 2015-10-19 | Genomas humanos ancestrales. |
MX2017004978A MX2017004978A (es) | 2014-10-17 | 2015-10-19 | Modelos de formacion de fases de haplotipo. |
Family Applications Before (1)
Application Number | Title | Priority Date | Filing Date |
---|---|---|---|
MX2017004980A MX2017004980A (es) | 2014-10-17 | 2015-10-19 | Genomas humanos ancestrales. |
Country Status (7)
Country | Link |
---|---|
US (4) | US10679729B2 (es) |
EP (2) | EP3207482B1 (es) |
AU (3) | AU2015331621B2 (es) |
CA (2) | CA2964905C (es) |
MX (2) | MX2017004980A (es) |
NZ (2) | NZ731884A (es) |
WO (2) | WO2016061570A1 (es) |
Families Citing this family (29)
Publication number | Priority date | Publication date | Assignee | Title |
---|---|---|---|---|
US9864835B2 (en) | 2007-10-15 | 2018-01-09 | 23Andme, Inc. | Genetic comparisons between grandparents and grandchildren |
US9336177B2 (en) | 2007-10-15 | 2016-05-10 | 23Andme, Inc. | Genome sharing |
US8463554B2 (en) | 2008-12-31 | 2013-06-11 | 23Andme, Inc. | Finding relatives in a database |
US8990250B1 (en) | 2011-10-11 | 2015-03-24 | 23Andme, Inc. | Cohort selection with privacy protection |
US10437858B2 (en) | 2011-11-23 | 2019-10-08 | 23Andme, Inc. | Database and data processing system for use with a network-based personal genetics services platform |
US10025877B2 (en) | 2012-06-06 | 2018-07-17 | 23Andme, Inc. | Determining family connections of individuals in a database |
US9213944B1 (en) | 2012-11-08 | 2015-12-15 | 23Andme, Inc. | Trio-based phasing using a dynamic Bayesian network |
US9213947B1 (en) | 2012-11-08 | 2015-12-15 | 23Andme, Inc. | Scalable pipeline for local ancestry inference |
MX2017004980A (es) * | 2014-10-17 | 2017-12-07 | Ancestry Com Dna Llc | Genomas humanos ancestrales. |
AU2015342771B2 (en) | 2014-11-06 | 2021-05-06 | Ancestryhealth.Com, Llc | Predicting health outcomes |
US10395759B2 (en) | 2015-05-18 | 2019-08-27 | Regeneron Pharmaceuticals, Inc. | Methods and systems for copy number variant detection |
CA2992397A1 (en) | 2015-07-13 | 2017-01-19 | Ancestry.Com Dna, Llc | Local genetic ethnicity determination system |
CA3079190A1 (en) * | 2017-10-17 | 2019-04-25 | President And Fellows Of Harvard College | Methods and systems for detection of somatic structural variants |
EP3776556A4 (en) | 2018-04-05 | 2021-12-15 | Ancestry.com DNA, LLC | COMMUNITY ASSIGNMENTS IN THE IDENTITY THROUGH ANALINE NETWORKS AND GENETIC VARIANTS |
EP3811366A4 (en) * | 2018-06-19 | 2022-03-23 | Ancestry.com DNA, LLC | FILTERING GENETIC NETWORKS TO DISCOVER POPULATIONS OF INTEREST |
NZ774718A (en) | 2018-09-11 | 2021-04-30 | Global ancestry determination system | |
CA3131344A1 (en) * | 2019-02-27 | 2020-09-03 | Ancestry.Com Dna, Llc | Graphical user interface displaying relatedness based on shared dna |
CA3147888A1 (en) * | 2019-07-19 | 2021-01-28 | 23Andme, Inc. | Phase-aware determination of identity-by-descent dna segments |
CA3149354A1 (en) * | 2019-08-02 | 2021-02-11 | Ancestry.Com Dna, Llc | Clustering of matched segments to determine linkage of dataset in a database |
US11514627B2 (en) | 2019-09-13 | 2022-11-29 | 23Andme, Inc. | Methods and systems for determining and displaying pedigrees |
MX2022007727A (es) | 2019-12-20 | 2022-07-19 | Ancestry Com Dna Llc | Enlace de conjuntos de datos de individuos a una base de datos. |
MX2022008847A (es) | 2020-01-17 | 2022-08-10 | Ancestry Com Dna Llc | Inferencia de ascendencia basada en red neuronal convolucional. |
US11817176B2 (en) | 2020-08-13 | 2023-11-14 | 23Andme, Inc. | Ancestry composition determination |
WO2022076909A1 (en) | 2020-10-09 | 2022-04-14 | 23Andme, Inc. | Formatting and storage of genetic markers |
CA3220758A1 (en) | 2021-05-20 | 2022-11-24 | Ancestry.Com Operations Inc. | Domain knowledge guided selection of nodes for addition to data trees |
WO2023281450A1 (en) | 2021-07-09 | 2023-01-12 | Ancestry.Com Operations Inc. | Handwriting recognition pipelines for genealogical records |
WO2023152692A1 (en) | 2022-02-10 | 2023-08-17 | Ancestry.Com Operations Inc. | Determining relationships of historical data records |
US20230325373A1 (en) | 2022-03-15 | 2023-10-12 | Ancestry.Com Operations Inc. | Machine-learning based automated document integration into genealogical trees |
WO2023200976A1 (en) | 2022-04-13 | 2023-10-19 | Ancestry.Com Dna, Llc | Accelerated hidden markov models for genotype analysis |
Family Cites Families (27)
Publication number | Priority date | Publication date | Assignee | Title |
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US1004139A (en) * | 1910-03-21 | 1911-09-26 | George Boettler | Traction-plow. |
US20030113727A1 (en) | 2000-12-06 | 2003-06-19 | Girn Kanwaljit Singh | Family history based genetic screening method and apparatus |
US7957907B2 (en) * | 2001-03-30 | 2011-06-07 | Sorenson Molecular Genealogy Foundation | Method for molecular genealogical research |
US20020143578A1 (en) | 2001-04-02 | 2002-10-03 | Cole Louis Scott | Interactives system and method for recording and assessing a person's inherited risk for a range of diseases |
WO2002101631A1 (en) * | 2001-06-08 | 2002-12-19 | President And Fellows Of Harvard College | Haplotype determination |
US20080154566A1 (en) | 2006-10-02 | 2008-06-26 | Sorenson Molecular Genealogy Foundation | Method and system for displaying genetic and genealogical data |
US7041455B2 (en) * | 2003-03-07 | 2006-05-09 | Illumigen Biosciences, Inc. | Method and apparatus for pattern identification in diploid DNA sequence data |
US8285486B2 (en) | 2006-01-18 | 2012-10-09 | Dna Tribes Llc | Methods of determining relative genetic likelihoods of an individual matching a population |
US8700334B2 (en) | 2006-07-31 | 2014-04-15 | International Business Machines Corporation | Methods and systems for reconstructing genomic common ancestors |
US8510057B1 (en) | 2007-10-15 | 2013-08-13 | 23Andme, Inc. | Summarizing an aggregate contribution to a characteristic for an individual |
US8463554B2 (en) * | 2008-12-31 | 2013-06-11 | 23Andme, Inc. | Finding relatives in a database |
US20130123120A1 (en) * | 2010-05-18 | 2013-05-16 | Natera, Inc. | Highly Multiplex PCR Methods and Compositions |
WO2012099890A1 (en) * | 2011-01-18 | 2012-07-26 | University Of Utah Research Foundation | Estimation of recent shared ancestry |
US20120283108A1 (en) * | 2011-05-03 | 2012-11-08 | Sampas Nicholas M | Method for phased genotyping of a diploid genome |
US9928338B2 (en) * | 2011-06-01 | 2018-03-27 | The Board Of Trustees Of The Leland Stanford Junior University | Method and system for phasing individual genomes in the context of clinical interpretation |
US10847248B2 (en) | 2012-08-10 | 2020-11-24 | The Board Of Trustees Of The Leland Stanford Junior University | Techniques for determining haplotype by population genotype and sequence data |
US9449143B2 (en) * | 2012-08-28 | 2016-09-20 | Inova Health System | Ancestral-specific reference genomes and uses thereof |
US20140067355A1 (en) | 2012-09-06 | 2014-03-06 | Ancestry.Com Dna, Llc | Using Haplotypes to Infer Ancestral Origins for Recently Admixed Individuals |
US10114922B2 (en) | 2012-09-17 | 2018-10-30 | Ancestry.Com Dna, Llc | Identifying ancestral relationships using a continuous stream of input |
US9213947B1 (en) * | 2012-11-08 | 2015-12-15 | 23Andme, Inc. | Scalable pipeline for local ancestry inference |
US9213944B1 (en) | 2012-11-08 | 2015-12-15 | 23Andme, Inc. | Trio-based phasing using a dynamic Bayesian network |
AU2014218418A1 (en) * | 2013-03-15 | 2015-10-01 | Ancestry.Com Dna, Llc | Family networks |
DK3207481T3 (da) | 2014-10-14 | 2020-02-03 | Ancestry Com Dna Llc | Reduktion af fejl ved forudsigelse af genetiske slægtskab |
MX2017004980A (es) | 2014-10-17 | 2017-12-07 | Ancestry Com Dna Llc | Genomas humanos ancestrales. |
CN110349631B (zh) * | 2019-07-30 | 2021-10-29 | 苏州亿康医学检验有限公司 | 确定子代对象的单体型的分析方法和装置 |
CA3149354A1 (en) * | 2019-08-02 | 2021-02-11 | Ancestry.Com Dna, Llc | Clustering of matched segments to determine linkage of dataset in a database |
CA3162092A1 (en) * | 2019-11-18 | 2021-05-27 | Embark Veterinary, Inc. | Methods and systems for determining ancestral relatedness |
-
2015
- 2015-10-19 MX MX2017004980A patent/MX2017004980A/es unknown
- 2015-10-19 AU AU2015331621A patent/AU2015331621B2/en active Active
- 2015-10-19 CA CA2964905A patent/CA2964905C/en active Active
- 2015-10-19 MX MX2017004978A patent/MX2017004978A/es unknown
- 2015-10-19 NZ NZ73188415A patent/NZ731884A/xx unknown
- 2015-10-19 AU AU2015331619A patent/AU2015331619B2/en active Active
- 2015-10-19 NZ NZ73182015A patent/NZ731820A/xx unknown
- 2015-10-19 EP EP15850985.1A patent/EP3207482B1/en active Active
- 2015-10-19 WO PCT/US2015/056187 patent/WO2016061570A1/en active Application Filing
- 2015-10-19 EP EP15851471.1A patent/EP3207483A4/en active Pending
- 2015-10-19 WO PCT/US2015/056164 patent/WO2016061568A1/en active Application Filing
- 2015-10-19 US US15/519,099 patent/US10679729B2/en active Active
- 2015-10-19 US US15/519,105 patent/US10504611B2/en active Active
- 2015-10-19 CA CA2964902A patent/CA2964902C/en active Active
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2019
- 2019-12-03 US US16/701,162 patent/US20200098445A1/en active Pending
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2020
- 2020-04-29 US US16/862,266 patent/US20200303035A1/en active Pending
-
2021
- 2021-03-10 AU AU2021201500A patent/AU2021201500B2/en active Active
Also Published As
Publication number | Publication date |
---|---|
MX2017004980A (es) | 2017-12-07 |
WO2016061568A1 (en) | 2016-04-21 |
US20170277827A1 (en) | 2017-09-28 |
AU2015331621B2 (en) | 2021-02-25 |
US10679729B2 (en) | 2020-06-09 |
EP3207483A1 (en) | 2017-08-23 |
AU2015331621A1 (en) | 2017-06-08 |
AU2015331619A1 (en) | 2017-06-08 |
AU2021201500B2 (en) | 2022-07-14 |
CA2964902A1 (en) | 2016-04-21 |
AU2015331619B2 (en) | 2020-12-10 |
EP3207482B1 (en) | 2023-04-05 |
CA2964905C (en) | 2023-03-21 |
EP3207482A1 (en) | 2017-08-23 |
US20170262577A1 (en) | 2017-09-14 |
US10504611B2 (en) | 2019-12-10 |
AU2021201500A1 (en) | 2021-03-25 |
CA2964905A1 (en) | 2016-04-21 |
CA2964902C (en) | 2023-03-21 |
WO2016061570A1 (en) | 2016-04-21 |
EP3207483A4 (en) | 2018-04-04 |
EP3207482A4 (en) | 2018-04-04 |
NZ731820A (en) | 2017-05-26 |
US20200303035A1 (en) | 2020-09-24 |
US20200098445A1 (en) | 2020-03-26 |
NZ731884A (en) | 2017-05-26 |
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