VarioML framework for comprehensive variation data representation and exchange - Test2 - elhamkhani - TriplyDB

VarioML framework for comprehensive variation data representation and exchange

VarioML framework for comprehensive variation data representation and exchange

http://www.wikidata.org/entity/Q28710506

about

Standard development at the Human Variome Project Variation Ontology for annotation of variation effects and mechanisms Cafe Variome: general-purpose software for making genotype-phenotype data discoverable in restricted or open access contexts.Expanded national database collection and data coverage in the FINDbase worldwide database for clinically relevant genomic variation allele frequencies.Next generation phenotyping using the unified medical language system Human genotype-phenotype databases: aims, challenges and opportunities.PON-P and PON-P2 predictor performance in CAGI challenges: Lessons learned.The Finnish disease heritage database (FinDis) update-a database for the genes mutated in the Finnish disease heritage brought to the next-generation sequencing era.

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P2860

VarioML framework for comprehensive variation data representation and exchange

http://www.wikidata.org/entity/Q28710506

description

2012 nî lūn-bûn

@nan

2012 թուականի Հոկտեմբերին հրատարակուած գիտական յօդուած

@hyw

2012 թվականի հոտեմբերին հրատարակված գիտական հոդված

@hy

2012年の論文

@ja

2012年論文

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2012年論文

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2012年論文

@zh-hk

2012年論文

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2012年論文

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2012年论文

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name

VarioML framework for comprehensive variation data representation and exchange

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VarioML framework for comprehensive variation data representation and exchange

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VarioML framework for comprehensive variation data representation and exchange

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type

label

VarioML framework for comprehensive variation data representation and exchange

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VarioML framework for comprehensive variation data representation and exchange

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VarioML framework for comprehensive variation data representation and exchange

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prefLabel

VarioML framework for comprehensive variation data representation and exchange

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VarioML framework for comprehensive variation data representation and exchange

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VarioML framework for comprehensive variation data representation and exchange

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1471-2105-13-254

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BMC Bioinformatics

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VarioML framework for comprehensive variation data representation and exchange

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Andrew Devereau

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Anthony J Brookes

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George P Patrinos

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Michael Cornell

http://www.w3.org/2001/XMLSchema#string

P2860

The Sequence Ontology: a tool for the unification of genome annotations

A formalized description of the standard human variant nomenclature in Extended Backus-Naur Form

Systematic documentation and analysis of human genetic variation in hemoglobinopathies using the microattribution approach

Identifiers.org and MIRIAM Registry: community resources to provide persistent identification

Recommendations for locus-specific databases and their curation

Integrating biological data--the Distributed Annotation System

A simple spreadsheet-based, MIAME-supportive format for microarray data: MAGE-TAB

Analysis of next-generation genomic data in cancer: accomplishments and challenges

Sharing data between LSDBs and central repositories

Semantic-JSON: a lightweight web service interface for Semantic Web contents integrating multiple life science databases

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1471-2105-13-254

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scholarly article

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Gudmundur A Thorisson

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Raymond Dalgleish

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