The Database of Genomic Variants: a curated collection of structural variation in the human genome.
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Mechanisms of Origin, Phenotypic Effects and Diagnostic Implications of Complex Chromosome RearrangementsHidden Markov Model-Based CNV Detection Algorithms for Illumina Genotyping MicroarraysGenomic sequencing of a dyslexia susceptibility haplotype encompassing ROBO1.Exome sequencing and CRISPR/Cas genome editing identify mutations of ZAK as a cause of limb defects in humans and mice.Molecular characterization of NRXN1 deletions from 19,263 clinical microarray cases identifies exons important for neurodevelopmental disease expression.Copy number variation of genes involved in the hepatitis C virus-human interactomeOxford Nanopore MinION Sequencing and Genome AssemblyConnecting the CNTNAP2 Networks with Neurodevelopmental DisordersCharacterization of human chromosomal material exchange with regard to the chromosome translocations using next-generation sequencing dataA genome-wide approach for detecting novel insertion-deletion variants of mid-range sizeClinical interpretation of CNVs with cross-species phenotype dataA Syndromic Neurodevelopmental Disorder Caused by De Novo Variants in EBF3Large Intragenic Deletion in DSTYK Underlies Autosomal-Recessive Complicated Spastic Paraparesis, SPG23.An oncogenic MYB feedback loop drives alternate cell fates in adenoid cystic carcinoma.The 2014 Nucleic Acids Research Database Issue and an updated NAR online Molecular Biology Database Collection.Computational approaches to study the effects of small genomic variations.Copy number variation in CEP57L1 predisposes to congenital absence of bilateral ACL and PCL ligaments.Systematic analysis of copy number variants of a large cohort of orofacial cleft patients identifies candidate genes for orofacial clefts.Genome at juncture of early human migration: a systematic analysis of two whole genomes and thirteen exomes from Kuwaiti population subgroup of inferred Saudi Arabian tribe ancestry.cnvScan: a CNV screening and annotation tool to improve the clinical utility of computational CNV prediction from exome sequencing dataGene expression profile analysis of pancreatic cancer based on microarray data.Discovering and understanding oncogenic gene fusions through data intensive computational approachesHigh Levels of Sample-to-Sample Variation Confound Data Analysis for Non-Invasive Prenatal Screening of Fetal Microdeletions.Enhanced copy number variants detection from whole-exome sequencing data using EXCAVATOR2Homozygous and hemizygous CNV detection from exome sequencing data in a Mendelian disease cohort.MultiDataSet: an R package for encapsulating multiple data sets with application to omic data integration.Copy number variability in Parkinson's disease: assembling the puzzle through a systems biology approachSmall deletion variants have stable breakpoints commonly associated with alu elements.A deletion and a duplication in distal 22q11.2 deletion syndrome region. Clinical implications and reviewThe 8p23 inversion polymorphism determines local recombination heterogeneity across human populationsTUFT1, a novel candidate gene for metatarsophalangeal osteoarthritis, plays a role in chondrogenesis on a calcium-related pathwayBiological relevance of CNV calling methods using familial relatedness including monozygotic twins.Adult expression of a 3q13.31 microdeletion.digit-a tool for detection and identification of genomic interchromosomal translocationsWhole Genome Sequencing Expands Diagnostic Utility and Improves Clinical Management in Pediatric MedicinePrenatal identification of two discontinuous maternally inherited chromosome 7q36.3 microduplications totaling 507 kb including the sonic hedgehog gene in a fetus with multiple congenital anomalies.TEMP: a computational method for analyzing transposable element polymorphism in populations.Use of clinical chromosomal microarray in Chinese patients with autism spectrum disorder-implications of a copy number variation involving DPP10Insertionally polymorphic sites of human endogenous retrovirus-K (HML-2) with long target site duplications.NGSCheckMate: software for validating sample identity in next-generation sequencing studies within and across data types.
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The Database of Genomic Variants: a curated collection of structural variation in the human genome.
description
article científic
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article scientifique
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articolo scientifico
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artigo científico
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bilimsel makale
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scientific article published on 29 October 2013
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vedecký článok
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vetenskaplig artikel
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videnskabelig artikel
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vědecký článek
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name
The Database of Genomic Varian ...... variation in the human genome.
@en
The Database of Genomic Varian ...... variation in the human genome.
@nl
type
label
The Database of Genomic Varian ...... variation in the human genome.
@en
The Database of Genomic Varian ...... variation in the human genome.
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prefLabel
The Database of Genomic Varian ...... variation in the human genome.
@en
The Database of Genomic Varian ...... variation in the human genome.
@nl
P2860
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P1476
The Database of Genomic Varian ...... variation in the human genome
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P2093
Robert Ziman
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P304
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10.1093/NAR/GKT958
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P433
Database issue
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2013-10-29T00:00:00Z