The functional impact of structural variation in humans.
about
Phenotypic consequences of copy number variation: insights from Smith-Magenis and Potocki-Lupski syndrome mouse modelsExploring the role of copy number variants in human adaptationTilting at quixotic trait loci (QTL): an evolutionary perspective on genetic causationOrigins and functional impact of copy number variation in the human genomeCopy number variation, chromosome rearrangement, and their association with recombination during avian evolutionCurrent status and the future for the genetics of type I diabetes.The transposon Galileo generates natural chromosomal inversions in Drosophila by ectopic recombination.G-CNV: A GPU-Based Tool for Preparing Data to Detect CNVs with Read-Depth Methods.Maize inbreds exhibit high levels of copy number variation (CNV) and presence/absence variation (PAV) in genome content.The impact of genomic neighborhood on the evolution of human and chimpanzee transcriptome.Systematic identification of balanced transposition polymorphisms in Saccharomyces cerevisiaeIdentification of copy number variants defining genomic differences among major human groupsAccurate distinction of pathogenic from benign CNVs in mental retardation.Novel origins of copy number variation in the dog genome.Detection of genomic variations and DNA polymorphisms and impact on analysis of meiotic recombination and genetic mapping.Ohnologs in the human genome are dosage balanced and frequently associated with disease.A time-invariant principle of genome evolution.Genome-wide mapping of copy number variation in humans: comparative analysis of high resolution array platforms.Expansion of stochastic expression repertoire by tandem duplication in mouse Protocadherin-α cluster.Reference-unbiased copy number variant analysis using CGH microarraysPervasive gene content variation and copy number variation in maize and its undomesticated progenitorIdentification of medium-sized genomic deletions with low coverage, mate-paired restricted tagsCharacterization of structural variants with single molecule and hybrid sequencing approaches.Worldwide population distribution of the common LCE3C-LCE3B deletion associated with psoriasis and other autoimmune disordersPerformance assessment of copy number microarray platforms using a spike-in experiment.Induced pluripotent stem cells: a new tool to confront the challenge of neuropsychiatric disordersMechanisms of x chromosome dosage compensation.A large novel deletion downstream of PAX6 gene in a Chinese family with ocular coloboma.Annual Research Review: The promise of stem cell research for neuropsychiatric disordersJuvenile polyposis and other intestinal polyposis syndromes with microdeletions of chromosome 10q22-23Copy-number variations observed in a Japanese population by BAC array CGH: summary of relatively rare CNVsComplex human chromosomal and genomic rearrangements.Analysis of Arabidopsis genome-wide variations before and after meiosis and meiotic recombination by resequencing Landsberg erecta and all four products of a single meiosisSegmental duplication, microinversion, and gene loss associated with a complex inversion breakpoint region in Drosophila.A Complex Structural Variation on Chromosome 27 Leads to the Ectopic Expression of HOXB8 and the Muffs and Beard Phenotype in Chickens.Understanding the molecular aspects of oriental obesity pattern differentiation using DNA microarray.Intraspecific evolution of human RCCX copy number variation traced by haplotypes of the CYP21A2 gene.Integrated view of genome structure and sequence of a single DNA molecule in a nanofluidic device.Analysis of copy number variants and segmental duplications in the human genome: Evidence for a change in the process of formation in recent evolutionary historyMicrodeletion syndromes disclose replication timing alterations of genes unrelated to the missing DNA.
P2860
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P2860
The functional impact of structural variation in humans.
description
2008 nî lūn-bûn
@nan
2008 թուականի Ապրիլին հրատարակուած գիտական յօդուած
@hyw
2008 թվականի ապրիլին 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
The functional impact of structural variation in humans.
@ast
The functional impact of structural variation in humans.
@en
type
label
The functional impact of structural variation in humans.
@ast
The functional impact of structural variation in humans.
@en
prefLabel
The functional impact of structural variation in humans.
@ast
The functional impact of structural variation in humans.
@en
P2860
P1433
P1476
The functional impact of structural variation in humans.
@en
P2093
Emmanouil T Dermitzakis
Matthew E Hurles
P2860
P304
P356
10.1016/J.TIG.2008.03.001
P577
2008-04-02T00:00:00Z