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Sharing data between LSDBs and central repositories

Sharing data between LSDBs and central repositories

http://www.wikidata.org/entity/Q28648442

about

Ensembl's 10th year ClinGen--the Clinical Genome Resource Collection of variation causing disease--the Human Variome Project VarioML framework for comprehensive variation data representation and exchange Towards linked open gene mutations data Practical guidelines addressing ethical issues pertaining to the curation of human locus-specific variation databases (LSDBs)Massively parallel digital high resolution melt for rapid and absolutely quantitative sequence profiling Establishment of an international database for genetic variants in esophageal cancer.LOVD v.2.0: the next generation in gene variant databases.Variation Interpretation Predictors: Principles, Types, Performance, and Choice.Human Variome Project Quality Assessment Criteria for Variation Databases.The Human Variome Project: ensuring the quality of DNA variant databases in inherited renal disease.DRUMS: a human disease related unique gene mutation search engine.Guidelines for establishing locus specific databases.WAVe: web analysis of the variome.Capturing all disease-causing mutations for clinical and research use: toward an effortless system for the Human Variome Project.Curating gene variant databases (LSDBs): toward a universal standard

P2860

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P2860

Sharing data between LSDBs and central repositories

http://www.wikidata.org/entity/Q28648442

description

2009 nî lūn-bûn

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2009 թուականի Ապրիլին հրատարակուած գիտական յօդուած

@hyw

2009 թվականի ապրիլին հրատարակված գիտական հոդված

@hy

2009年の論文

@ja

2009年論文

@yue

2009年論文

@zh-hant

2009年論文

@zh-hk

2009年論文

@zh-mo

2009年論文

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2009年论文

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name

Sharing data between LSDBs and central repositories

@ast

Sharing data between LSDBs and central repositories

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Sharing data between LSDBs and central repositories

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type

label

Sharing data between LSDBs and central repositories

@ast

Sharing data between LSDBs and central repositories

@en

Sharing data between LSDBs and central repositories

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prefLabel

Sharing data between LSDBs and central repositories

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Sharing data between LSDBs and central repositories

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Sharing data between LSDBs and central repositories

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Sharing data between LSDBs and central repositories

@en

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C Conover Talbot

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

Johan T den Dunnen

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

Richard G H Cotton

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

Sandro Rossetti

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

Sue Povey

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

P2860

Identification and analysis of functional elements in 1% of the human genome by the ENCODE pilot project

Recommendations for locus-specific databases and their curation

PhenCode: connecting ENCODE data with mutations and phenotype.

Genetic interaction between Bardet-Biedl syndrome genes and implications for limb patterning

Sequence variant classification and reporting: recommendations for improving the interpretation of cancer susceptibility genetic test results.

A systematic genetic assessment of 1,433 sequence variants of unknown clinical significance in the BRCA1 and BRCA2 breast cancer-predisposition genes

Perspective on genes and mutations causing retinitis pigmentosa.

A survey of locus-specific database curation. Human Genome Variation Society.

Recommendations of the 2006 Human Variome Project meeting.

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493-5

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scholarly article

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10.1002/HUMU.20977

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4

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30

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P50

Paal S Andersen

Jacques S. Beckmann

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2009-04-01T00:00:00Z

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24219764

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19306393

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4409810

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