Locus Reference Genomic sequences: an improved basis for describing human DNA variants. - Wikidata - awgldk - TriplyDB

Locus Reference Genomic sequences: an improved basis for describing human DNA variants.

Locus Reference Genomic sequences: an improved basis for describing human DNA variants.

http://www.wikidata.org/entity/Q33865762

about

Ensembl variation resources A formalized description of the standard human variant nomenclature in Extended Backus-Naur Form Current status and new features of the Consensus Coding Sequence database Ensembl 2011 Medical genomics: The intricate path from genetic variant identification to clinical interpretation Ensembl 2013 Changing genetic paradigms: creating next-generation genetic databases as tools to understand the emerging complexities of genotype/phenotype relationships Reference sequence (RefSeq) database at NCBI: current status, taxonomic expansion, and functional annotation Standard development at the Human Variome Project Variation Ontology for annotation of variation effects and mechanisms VarioML framework for comprehensive variation data representation and exchange Reporting of Genetic Variants by Diagnostic Laboratories and other Centres Ensembl 2015 NCBI Reference Sequences (RefSeq): current status, new features and genome annotation policy Establishment of an international database for genetic variants in esophageal cancer.Disease and phenotype data at Ensembl.UASIS: Universal Automatic SNP Identification System.The challenges of genome analysis in the health care setting.VariBench: a benchmark database for variations.Variation Interpretation Predictors: Principles, Types, Performance, and Choice.Variobox: automatic detection and annotation of human genetic variants.RefSeq: an update on mammalian reference sequences.Variation ontology: annotator guide Pharmacogenetic allele nomenclature: International workgroup recommendations for test result reporting.VariOtator, a Software Tool for Variation Annotation with the Variation Ontology.Human Variome Project Quality Assessment Criteria for Variation Databases.HGVS Recommendations for the Description of Sequence Variants: 2016 Update.Ten new cases further delineate the syndromic intellectual disability phenotype caused by mutations in DYRK1A.Paralogous annotation of disease-causing variants in long QT syndrome genes.Truncated prelamin A expression in HGPS-like patients: a transcriptional study.The Ensembl Variant Effect Predictor.Towards precision medicine: advances in computational approaches for the analysis of human variants Locus Reference Genomic: reference sequences for the reporting of clinically relevant sequence variants.Best practice guidelines for the use of next-generation sequencing applications in genome diagnostics: a national collaborative study of Dutch genome diagnostic laboratories.Recommendations 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.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.Human genotype-phenotype databases: aims, challenges and opportunities.

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P2860

Locus Reference Genomic sequences: an improved basis for describing human DNA variants.

http://www.wikidata.org/entity/Q33865762

description

2010 nî lūn-bûn

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2010 թուականի Ապրիլին հրատարակուած գիտական յօդուած

@hyw

2010 թվականի ապրիլին հրատարակված գիտական հոդված

@hy

2010年の論文

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2010年論文

@yue

2010年論文

@zh-hant

2010年論文

@zh-hk

2010年論文

@zh-mo

2010年論文

@zh-tw

2010年论文

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name

Locus Reference Genomic sequences: an improved basis for describing human DNA variants.

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Locus Reference Genomic sequences: an improved basis for describing human DNA variants.

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type

label

Locus Reference Genomic sequences: an improved basis for describing human DNA variants.

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Locus Reference Genomic sequences: an improved basis for describing human DNA variants.

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Locus Reference Genomic sequences: an improved basis for describing human DNA variants.

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Locus Reference Genomic sequences: an improved basis for describing human DNA variants.

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Genome Medicine

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Locus Reference Genomic sequences: an improved basis for describing human DNA variants

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Alex Astashyn

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Andrew Devereau

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Anthony J Brookes

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Donna R Maglott

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Glen Dobson

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

Glenn Proctor

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

Johan T den Dunnen

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

Raymond E Tully

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

Yuan Chen

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

P2860

dbSNP: the NCBI database of genetic variation

Ensembl's 10th year

Standard mutation nomenclature in molecular diagnostics: practical and educational challenges

Identification and characterization of six new alternatively spliced variants of the human mu opioid receptor gene, Oprm

NCBI Reference Sequences: current status, policy and new initiatives

Mutation nomenclature extensions and suggestions to describe complex mutations: a discussion

LOVD: easy creation of a locus-specific sequence variation database using an "LSDB-in-a-box" approach.

Improving sequence variant descriptions in mutation databases and literature using the Mutalyzer sequence variation nomenclature checker.

INK4a/ARF: a multifunctional tumor suppressor locus.

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24

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scholarly article

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10.1186/GM145

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4

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2

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Fiona Cunningham

William M McLaren

Heikki Lehväslaiho

Peter E Taschner

Raymond Dalgleish

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2010-04-15T00:00:00Z

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20398331

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