Lista de obras - Tudor Groza - Dominio Público Uruguay

A Whole-Genome Analysis Framework for Effective Identification of Pathogenic Regulatory Variants in Mendelian Disease

artículo científico publicado en 2016

A review of argumentation for the Social Semantic Web ⬇️

artículo científico publicado en 2013

A supervised approach to quantifying sentence similarity: with application to evidence based medicine

artículo científico publicado en 2015

Assessing the impact of case sensitivity and term information gain on biomedical concept recognition

artículo científico publicado en 2015

Automatic concept recognition using the human phenotype ontology reference and test suite corpora

artículo científico publicado en 2015

BioHackathon 2015: Semantics of data for life sciences and reproducible research

artículo científico publicado en 2020

Bridging the Gap between Linked Data and the Semantic Desktop

Building interpretable models for polypharmacy prediction in older chronic patients based on drug prescription records

scientific article published in 2018

CORAAL—Dive into publications, bathe in the knowledge

Cancer Care Treatment Outcome Ontology: A Novel Computable Ontology for Profiling Treatment Outcomes in Patients With Solid Tumors

scientific article published on 01 December 2018

Capturing domain knowledge from multiple sources: the rare bone disorders use case

artículo científico

CogStack - Experiences Of Deploying Integrated Information Retrieval And Extraction Services In A Large National Health Service Foundation Trust Hospital

article

CogStack - experiences of deploying integrated information retrieval and extraction services in a large National Health Service Foundation Trust hospital.

artículo científico publicado en 2018

Concept selection for phenotypes and diseases using learn to rank

artículo científico publicado en 2015

Decision support methods for finding phenotype--disorder associations in the bone dysplasia domain

artículo científico publicado en 2012

Decomposing Phenotype Descriptions for the Human Skeletal Phenome ⬇️

artículo científico publicado el 4 de febrero de 2013

Enabling Global Clinical Collaborations on Identifiable Patient Data: The Minerva Initiative

scientific article published on 29 July 2019

Encoding Clinical Data with the Human Phenotype Ontology for Computational Differential Diagnostics

scientific article published on 01 September 2019

Expansion of the Human Phenotype Ontology (HPO) knowledge base and resources

article by Sebastian Köhler et al published 8 January 2019 in Nucleic Acids Research

Experiences with Modeling Composite Phenotypes in the SKELETOME Project

artículo científico publicado en 2012

From raw publications to Linked Data

Generation of silver standard concept annotations from biomedical texts with special relevance to phenotypes

artículo científico publicado en 2015

Getting ready for the Human Phenome Project: the 2012 forum of the Human Variome Project

artículo científico publicado en 2013

Harmonising phenomics information for a better interoperability in the rare disease field

artículo científico publicado en 2018

How many rare diseases are there?

artículo científico publicado en 2020

Identifying scientific artefacts in biomedical literature: the Evidence Based Medicine use case.

artículo científico publicado en 2014

Impacts of genomics on the health and social costs of intellectual disability

artículo científico publicado en 2020

Improved Diagnosis and Care for Rare Diseases through Implementation of Precision Public Health Framework

artículo científico publicado en 2017

Inferring characteristic phenotypes via class association rule mining in the bone dysplasia domain

artículo científico publicado en 2013

Initiating an undiagnosed diseases program in the Western Australian public health system

artículo científico publicado en 2017

KonneXSALT: First Steps Towards a Semantic Claim Federation Infrastructure

Linking Semantic Desktop Data to the Web of Data

article by Laura Drăgan et al published 2011 in Lecture Notes in Computer Science

Matchmaker Exchange

artículo científico publicado en 2017

Mining skeletal phenotype descriptions from scientific literature

artículo científico publicado en 2013

Modelling expertise at different levels of granularity using semantic similarity measures in the context of collaborative knowledge-curation platforms

artículo científico publicado en 2016

Navigating the Phenotype Frontier: The Monarch Initiative

artículo científico publicado en 2016

Navigating the phenotype frontier: The Monarch Initiative

PhenoMiner: from text to a database of phenotypes associated with OMIM diseases

artículo científico publicado en 2015

Phenotyping: targeting genotype's rich cousin for diagnosis

artículo científico publicado en 2014

Plain-language medical vocabulary for precision diagnosis

artículo científico publicado en 2018

Reasoning on Crowd-Sourced Semantic Annotations to Facilitate Cataloguing of 3D Artefacts in the Cultural Heritage Domain

artículo científico publicado en 2013

Recognizing Scientific Artifacts in Biomedical Literature ⬇️

artículo científico publicado el 2 de abril de 2013

SALT: Weaving the Claim Web

Semantic Similarity-Driven Decision Support in the Skeletal Dysplasia Domain

artículo científico publicado en 2012

Semantic interestingness measures for discovering association rules in the skeletal dysplasia domain

artículo científico publicado en 2014

Special issue on bio-ontologies and phenotypes

artículo científico publicado en 2015

State of the art and open challenges in community-driven knowledge curation

Supervised segmentation of phenotype descriptions for the human skeletal phenome using hybrid methods ⬇️

artículo científico publicado el 15 de octubre de 2012

The Bone Dysplasia Ontology: integrating genotype and phenotype information in the skeletal dysplasia domain.

artículo científico

The Human Phenotype Ontology in 2017

artículo científico publicado en 2016

The Human Phenotype Ontology: Semantic Unification of Common and Rare Disease

artículo científico publicado en 2015

The Monarch Initiative in 2019: an integrative data and analytic platform connecting phenotypes to genotypes across species

artículo científico publicado en 2020

The Monarch Initiative: Insights across species reveal human disease mechanisms

The Monarch Initiative: an integrative data and analytic platform connecting phenotypes to genotypes across species

artículo científico publicado en 2017

The digital revolution in phenotyping

artículo científico publicado en 2015

Thematic issue of the Second combined Bio-ontologies and Phenotypes Workshop

artículo científico

Toward knowledge support for analysis and interpretation of complex traits ⬇️

artículo científico publicado el 1 de enero de 2013

Use of model organism and disease databases to support matchmaking for human disease gene discovery

artículo científico publicado en 2015

Using Semantic Web Technologies to Build a Community-Driven Knowledge Curation Platform for the Skeletal Dysplasia Domain

artículo científico publicado en 2011

Using silver and semi-gold standard corpora to compare open named entity recognisers

scholarly article published December 2013

Using typed dependencies to study and recognise conceptualisation zones in biomedical literature

artículo científico publicado en 2013

Lista de obras de Tudor Groza

A Whole-Genome Analysis Framework for Effective Identification of Pathogenic Regulatory Variants in Mendelian Disease

A review of argumentation for the Social Semantic Web ⬇️

A supervised approach to quantifying sentence similarity: with application to evidence based medicine

Assessing the impact of case sensitivity and term information gain on biomedical concept recognition

Automatic concept recognition using the human phenotype ontology reference and test suite corpora

BioHackathon 2015: Semantics of data for life sciences and reproducible research

Bridging the Gap between Linked Data and the Semantic Desktop

Building interpretable models for polypharmacy prediction in older chronic patients based on drug prescription records

CORAAL—Dive into publications, bathe in the knowledge

Cancer Care Treatment Outcome Ontology: A Novel Computable Ontology for Profiling Treatment Outcomes in Patients With Solid Tumors

Capturing domain knowledge from multiple sources: the rare bone disorders use case

CogStack - Experiences Of Deploying Integrated Information Retrieval And Extraction Services In A Large National Health Service Foundation Trust Hospital

CogStack - experiences of deploying integrated information retrieval and extraction services in a large National Health Service Foundation Trust hospital.

Concept selection for phenotypes and diseases using learn to rank

Decision support methods for finding phenotype--disorder associations in the bone dysplasia domain

Decomposing Phenotype Descriptions for the Human Skeletal Phenome ⬇️

Enabling Global Clinical Collaborations on Identifiable Patient Data: The Minerva Initiative

Encoding Clinical Data with the Human Phenotype Ontology for Computational Differential Diagnostics

Expansion of the Human Phenotype Ontology (HPO) knowledge base and resources

Experiences with Modeling Composite Phenotypes in the SKELETOME Project

From raw publications to Linked Data

Generation of silver standard concept annotations from biomedical texts with special relevance to phenotypes

Getting ready for the Human Phenome Project: the 2012 forum of the Human Variome Project

Harmonising phenomics information for a better interoperability in the rare disease field

How many rare diseases are there?

Identifying scientific artefacts in biomedical literature: the Evidence Based Medicine use case.

Impacts of genomics on the health and social costs of intellectual disability

Improved Diagnosis and Care for Rare Diseases through Implementation of Precision Public Health Framework

Inferring characteristic phenotypes via class association rule mining in the bone dysplasia domain

Initiating an undiagnosed diseases program in the Western Australian public health system

KonneXSALT: First Steps Towards a Semantic Claim Federation Infrastructure

Linking Semantic Desktop Data to the Web of Data

Matchmaker Exchange

Mining skeletal phenotype descriptions from scientific literature

Modelling expertise at different levels of granularity using semantic similarity measures in the context of collaborative knowledge-curation platforms

Navigating the Phenotype Frontier: The Monarch Initiative

Navigating the phenotype frontier: The Monarch Initiative

PhenoMiner: from text to a database of phenotypes associated with OMIM diseases

Phenotyping: targeting genotype's rich cousin for diagnosis

Plain-language medical vocabulary for precision diagnosis

Reasoning on Crowd-Sourced Semantic Annotations to Facilitate Cataloguing of 3D Artefacts in the Cultural Heritage Domain

Recognizing Scientific Artifacts in Biomedical Literature ⬇️

SALT: Weaving the Claim Web

Semantic Similarity-Driven Decision Support in the Skeletal Dysplasia Domain

Semantic interestingness measures for discovering association rules in the skeletal dysplasia domain

Special issue on bio-ontologies and phenotypes

State of the art and open challenges in community-driven knowledge curation

Supervised segmentation of phenotype descriptions for the human skeletal phenome using hybrid methods ⬇️

The Bone Dysplasia Ontology: integrating genotype and phenotype information in the skeletal dysplasia domain.

The Human Phenotype Ontology in 2017

The Human Phenotype Ontology: Semantic Unification of Common and Rare Disease

The Monarch Initiative in 2019: an integrative data and analytic platform connecting phenotypes to genotypes across species

The Monarch Initiative: Insights across species reveal human disease mechanisms

The Monarch Initiative: an integrative data and analytic platform connecting phenotypes to genotypes across species

The digital revolution in phenotyping

Thematic issue of the Second combined Bio-ontologies and Phenotypes Workshop

Toward knowledge support for analysis and interpretation of complex traits ⬇️

Use of model organism and disease databases to support matchmaking for human disease gene discovery

Using Semantic Web Technologies to Build a Community-Driven Knowledge Curation Platform for the Skeletal Dysplasia Domain

Using silver and semi-gold standard corpora to compare open named entity recognisers

Using typed dependencies to study and recognise conceptualisation zones in biomedical literature