The functional impact of structural variation in humans. - Wikidata - awgldk - TriplyDB

The functional impact of structural variation in humans.

The functional impact of structural variation in humans.

http://www.wikidata.org/entity/Q33847296

about

Phenotypic consequences of copy number variation: insights from Smith-Magenis and Potocki-Lupski syndrome mouse models Exploring the role of copy number variants in human adaptation Tilting at quixotic trait loci (QTL): an evolutionary perspective on genetic causation Origins and functional impact of copy number variation in the human genome Copy number variation, chromosome rearrangement, and their association with recombination during avian evolution Current 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 cerevisiae Identification of copy number variants defining genomic differences among major human groups Accurate 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 microarrays Pervasive gene content variation and copy number variation in maize and its undomesticated progenitor Identification of medium-sized genomic deletions with low coverage, mate-paired restricted tags Characterization 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 disorders Performance assessment of copy number microarray platforms using a spike-in experiment.Induced pluripotent stem cells: a new tool to confront the challenge of neuropsychiatric disorders Mechanisms 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 disorders Juvenile polyposis and other intestinal polyposis syndromes with microdeletions of chromosome 10q22-23 Copy-number variations observed in a Japanese population by BAC array CGH: summary of relatively rare CNVs Complex 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 meiosis Segmental 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 history Microdeletion syndromes disclose replication timing alterations of genes unrelated to the missing DNA.

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P2860

The functional impact of structural variation in humans.

http://www.wikidata.org/entity/Q33847296

description

2008 nî lūn-bûn

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2008 թուականի Ապրիլին հրատարակուած գիտական յօդուած

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2008 թվականի ապրիլին հրատարակված գիտական հոդված

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2008年の論文

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2008年論文

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2008年論文

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2008年論文

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2008年論文

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2008年论文

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The functional impact of structural variation in humans.

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The functional impact of structural variation in humans.

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The functional impact of structural variation in humans.

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The functional impact of structural variation in humans.

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J.TIG.2008.03.001

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Trends in Genetics

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The functional impact of structural variation in humans.

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Emmanouil T Dermitzakis

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Matthew E Hurles

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P2860

Initial sequencing and analysis of the human genome

The diploid genome sequence of an individual human

Genomic disorders: molecular mechanisms for rearrangements and conveyed phenotypes

Population stratification of a common APOBEC gene deletion polymorphism

Structural variation in the human genome

Fine-scale structural variation of the human genome

Submicroscopic deletion in patients with Williams-Beuren syndrome influences expression levels of the nonhemizygous flanking genes

Relative quantification of 40 nucleic acid sequences by multiplex ligation-dependent probe amplification

Strong association of de novo copy number mutations with autism

Paired-end mapping reveals extensive structural variation in the human genome

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238-245

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scholarly article

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10.1016/J.TIG.2008.03.001

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5

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24

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Chris Tyler-Smith

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