Locus Reference Genomic: reference sequences for the reporting of clinically relevant sequence variants.
about
The EBI Search engine: providing search and retrieval functionality for biological data from EMBL-EBIEnsembl 2015The 2014 Nucleic Acids Research Database Issue and an updated NAR online Molecular Biology Database Collection.A framework for organizing cancer-related variations from existing databases, publications and NGS data using a High-performance Integrated Virtual Environment (HIVE)Collaborative science in the next-generation sequencing era: a viewpoint on how to combine exome sequencing data across sites to identify novel disease susceptibility genes.Genome annotation for clinical genomic diagnostics: strengths and weaknessesGenenames.org: the HGNC resources in 2015RefSeq: an update on mammalian reference sequences.VariOtator, a Software Tool for Variation Annotation with the Variation Ontology.HGVS Recommendations for the Description of Sequence Variants: 2016 Update.Using ClinVar as a Resource to Support Variant InterpretationIntegrated allelic, transcriptional, and phenomic dissection of the cardiac effects of titin truncations in health and diseaseA variant by any name: quantifying annotation discordance across tools and clinical databasesClinVar: public archive of relationships among sequence variation and human phenotypeSCN1B gene variants in Brugada Syndrome: a study of 145 SCN5A-negative patientsRecommendations for analyzing and reporting TP53 gene variants in the high-throughput sequencing era.Genetic variations and diseases in UniProtKB/Swiss-Prot: the ins and outs of expert manual curation.Human genotype-phenotype databases: aims, challenges and opportunities.LSDBs and How They Have Evolved.Recommendations for a nomenclature system for reporting methylation aberrations in imprinted domains.Preface - Access to Knowledge Revisited.OpEx - a validated, automated pipeline optimised for clinical exome sequence analysis.VariantValidator: Accurate validation, mapping, and formatting of sequence variation descriptions.Thorough analysis of unorthodox ABO deletions called by the 1000 Genomes project.DCC mutation update: Congenital mirror movements, isolated agenesis of the corpus callosum, and developmental split brain syndrome.Sequence Variant Descriptions: HGVS Nomenclature and Mutalyzer.NDDVD: an integrated and manually curated Neurodegenerative Diseases Variation Database.
P2860
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P2860
Locus Reference Genomic: reference sequences for the reporting of clinically relevant sequence variants.
description
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name
Locus Reference Genomic: refer ...... ly relevant sequence variants.
@en
Locus Reference Genomic: refer ...... ly relevant sequence variants.
@nl
type
label
Locus Reference Genomic: refer ...... ly relevant sequence variants.
@en
Locus Reference Genomic: refer ...... ly relevant sequence variants.
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prefLabel
Locus Reference Genomic: refer ...... ly relevant sequence variants.
@en
Locus Reference Genomic: refer ...... ly relevant sequence variants.
@nl
P2093
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Locus Reference Genomic: refer ...... ly relevant sequence variants.
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Alex Astashyn
Donna R Maglott
Ray E Tully
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10.1093/NAR/GKT1198
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P433
Database issue
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P577
2013-11-26T00:00:00Z