Recommendations for locus-specific databases and their curation
about
Sharing data between LSDBs and central repositoriesVarioML framework for comprehensive variation data representation and exchangeReporting of Genetic Variants by Diagnostic Laboratories and other CentresComputational approaches to study the effects of small genomic variations.LOVD v.2.0: the next generation in gene variant databases.Ontological phenotype standards for neurogenetics.How to catch all those mutations--the report of the third Human Variome Project Meeting, UNESCO Paris, May 2010.The TREAT-NMD DMD Global Database: analysis of more than 7,000 Duchenne muscular dystrophy mutations.Description and analysis of genetic variants in French hereditary breast and ovarian cancer families recorded in the UMD-BRCA1/BRCA2 databases.VariOtator, a Software Tool for Variation Annotation with the Variation Ontology.Human Variome Project Quality Assessment Criteria for Variation Databases.Secondary variants in individuals undergoing exome sequencing: screening of 572 individuals identifies high-penetrance mutations in cancer-susceptibility genes.Locus-specific databases and recommendations to strengthen their contribution to the classification of variants in cancer susceptibility genes.DMDtoolkit: a tool for visualizing the mutated dystrophin protein and predicting the clinical severity in DMDCFTR-France, a national relational patient database for sharing genetic and phenotypic data associated with rare CFTR variants.UMD-MLH1/MSH2/MSH6 databases: description and analysis of genetic variations in French Lynch syndrome families.Familial hypercholesterolemia: epidemiology, Neolithic origins and modern geographic distribution.The inherited ataxias: genetic heterogeneity, mutation databases, and future directions in research and clinical diagnostics.DNA variant databases improve test accuracy and phenotype prediction in Alport syndrome.The Human Variome Project: ensuring the quality of DNA variant databases in inherited renal disease.A1ATVar: a relational database of human SERPINA1 gene variants leading to alpha1-antitrypsin deficiency and application of the VariVis software.DRUMS: a human disease related unique gene mutation search engine.Guidelines for establishing locus specific databases.HGV&TB: a comprehensive online resource on human genes and genetic variants associated with tuberculosis.Integration of molecular and clinical data of 40 unrelated von Willebrand Disease families in a Spanish locus-specific mutation database: first release including 58 mutations.The COL7A1 mutation database.Fanconi Anemia germline variants as susceptibility factors in aplastic anemia, MDS and AML.Clinical Variant Classification: A Comparison of Public Databases and a Commercial Testing Laboratory.Molecular characterization of exonic rearrangements and frame shifts in the dystrophin gene in Duchenne muscular dystrophy patients in a Saudi community.
P2860
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P2860
Recommendations for locus-specific databases and their curation
description
2008 nî lūn-bûn
@nan
2008 թուականի Յունուարին հրատարակուած գիտական յօդուած
@hyw
2008 թվականի հունվարին հրատարակված գիտական հոդված
@hy
2008年の論文
@ja
2008年論文
@yue
2008年論文
@zh-hant
2008年論文
@zh-hk
2008年論文
@zh-mo
2008年論文
@zh-tw
2008年论文
@wuu
name
Recommendations for locus-specific databases and their curation
@ast
Recommendations for locus-specific databases and their curation
@en
Recommendations for locus-specific databases and their curation
@nl
type
label
Recommendations for locus-specific databases and their curation
@ast
Recommendations for locus-specific databases and their curation
@en
Recommendations for locus-specific databases and their curation
@nl
prefLabel
Recommendations for locus-specific databases and their curation
@ast
Recommendations for locus-specific databases and their curation
@en
Recommendations for locus-specific databases and their curation
@nl
P2093
P2860
P50
P356
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P1476
Recommendations for locus-specific databases and their curation
@en
P2093
A J Brookes
B Gottlieb
C R Scriver
D W Nebert
H Lehvaslaiho
J T den Dunnen
M S Greenblatt
P2860
P356
10.1002/HUMU.20650
P407
P577
2008-01-01T00:00:00Z