Leiden Open Variation Database

Results: 9



#Item
1Molecular biology / DNA / Genetic mapping / American College of Medical Genetics / Mutalyzer / Leiden Open Variation Database / Exome sequencing / Human genome / Full genome sequencing / Biology / Genetics / Genomics

© American College of Medical Genetics and Genomics ACMG Standards and Guidelines Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American

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Source URL: www.acmg.net

Language: English - Date: 2015-03-05 15:46:29
2Science / Leiden Open Variation Database / Mutalyzer / Taschner

DOC Document

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Source URL: s3-ap-southeast-2.amazonaws.com

Language: English - Date: 2015-04-15 19:24:20
3Biological databases / Academic publishing / Leiden Open Variation Database / Knowledge representation / Provenance / Data mining / Metadata / Data sharing / Microattribution / Science / Knowledge / Academia

c o m m e n ta r y The value of data © 2011 Nature America, Inc. All rights reserved.

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Source URL: www.nature.com

Language: English - Date: 2011-03-30 06:08:16
4Science / Leiden Open Variation Database / Thalassemia / HBA2 / Hemoglobin /  alpha 1 / Hemoglobin / HBB / Globin / Human genetic variation / Hemoglobins / Biology / Genetics

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

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Source URL: globin.bx.psu.edu

Language: English - Date: 2011-03-23 10:28:46
5Leiden Open Variation Database / Human Mutation / Mutation / Science / Philosophy of biology / Biological databases / Biology / Human Variome Project

8th November[removed]Minutes of the Business Meeting of the Human Genome Variation Society, Inc. 23rd October[removed]PM – 6.23 PM

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Source URL: www.hgvs.org

Language: English - Date: 2012-01-19 05:14:59
6Science / Genomics / Leiden Open Variation Database / Molecular biology / Cancer research / Human Variome Project / Mutation / GEN2PHEN / HUGO Gene Nomenclature Committee / Biology / Biological databases / Genetics

28th 21st November[removed]Minutes of the Business Meeting of the Human Genome Variation Society, Inc.

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Source URL: www.hgvs.org

Language: English - Date: 2012-01-19 05:14:59
7Human genetic variation / Leiden Open Variation Database / Exome sequencing / Wellcome Trust Sanger Institute / Genomes Project / Compound heterozygosity / Genome project / Medical genetics / Penetrance / Biology / Genetics / Human genome

Guidelines for investigating causality of sequence variants in human disease

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Source URL: www.nature.com

Language: English - Date: 2014-04-23 12:59:46
8Bioinformatics / Epidemiology / Clinical research / Pharmaceutical industry / Orphanet / Nursing research / Rare disease / Leiden Open Variation Database / Clinical trial / Science / Biological databases / Health

Orphanet Report Series Rare Diseases collection December[removed]List of Research Infrastructures

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Source URL: www.orpha.net

Language: English - Date: 2013-12-12 11:15:01
9DNA / Gene expression / Biological databases / Bioinformatics / Locus Reference Genomic / Mutalyzer / Accession number / Leiden Open Variation Database / Human genome / Biology / Genetics / Genomics

Dalgleish et al. Genome Medicine 2010, 2:24 http://genomemedicine.com/content[removed]

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Source URL: www.ncbi.nlm.nih.gov

Language: English
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