Phenotypic impact of genomic structural variation: insights from and for human disease.
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Mechanisms underlying structural variant formation in genomic disordersMassively parallel sequencing: the new frontier of hematologic genomicsStructural variation discovery in the cancer genome using next generation sequencing: computational solutions and perspectivesCopy number variation in the horse genomeNew insights into the generation and role of de novo mutations in health and diseaseComplex and multi-allelic copy number variation in human diseaseThe contribution of de novo coding mutations to autism spectrum disorderIdentifying Loci Contributing to Natural Variation in Xenobiotic Resistance in DrosophilaFunctional analysis of a chromosomal deletion associated with myelodysplastic syndromes using isogenic human induced pluripotent stem cells.The Sequences of 1,504 Mutants in the Model Rice Variety Kitaake Facilitate Rapid Functional Genomic Studies.SV-AUTOPILOT: optimized, automated construction of structural variation discovery and benchmarking pipelines.Whole genome sequencing of one complex pedigree illustrates challenges with genomic medicineSprites: detection of deletions from sequencing data by re-aligning split reads.The Evolution of Orphan Regions in Genomes of a Fungal Pathogen of Wheat.Sequencing and de novo assembly of a near complete indica rice genome.Linkage disequilibrium and signatures of positive selection around LINE-1 retrotransposons in the human genome.Characterization of Copy Number Variation's Potential Role in Marek's Diseasede novo assembly and population genomic survey of natural yeast isolates with the Oxford Nanopore MinION sequencer.Detection of copy number variations and their effects in Chinese bullsLinked read sequencing resolves complex genomic rearrangements in gastric cancer metastases.Opposite effects on facial morphology due to gene dosage sensitivityPrimate genome architecture influences structural variation mechanisms and functional consequences.Topology of mammalian developmental enhancers and their regulatory landscapes.An integrated map of structural variation in 2,504 human genomes.Recurrent CYP2C19 deletion allele is associated with triple-negative breast cancer.Concurrent triplication and uniparental isodisomy: evidence for microhomology-mediated break-induced replication model for genomic rearrangements.Copy number variations in a population-based study of Charcot-Marie-Tooth diseaseDid the fire ant supergene evolve selfishly or socially?Rapid detection of structural variation in a human genome using nanochannel-based genome mapping technology.Subtle changes in motif positioning cause tissue-specific effects on robustness of an enhancer's activity.TSSV: a tool for characterization of complex allelic variants in pure and mixed genomes.Inferring the global structure of chromosomes from structural variations.Involvement of a citrus meiotic recombination TTC-repeat motif in the formation of gross deletions generated by ionizing radiation and MULE activation.Wham: Identifying Structural Variants of Biological ConsequenceSystematic identification of phenotypically enriched loci using a patient network of genomic disordersThe impact and origin of copy number variations in the Oryza speciesAn integrated analysis tool for analyzing hybridization intensities and genotypes using new-generation population-optimized human arrays.SMASH, a fragmentation and sequencing method for genomic copy number analysis.Impact of Parental Bos taurus and Bos indicus Origins on Copy Number Variation in Traditional Chinese Cattle Breeds.Genome-wide patterns of copy number variation in the Chinese yak genome
P2860
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P2860
Phenotypic impact of genomic structural variation: insights from and for human disease.
description
2013 nî lūn-bûn
@nan
2013 թուականի Փետրուարին հրատարակուած գիտական յօդուած
@hyw
2013 թվականի փետրվարին հրատարակված գիտական հոդված
@hy
2013年の論文
@ja
2013年論文
@yue
2013年論文
@zh-hant
2013年論文
@zh-hk
2013年論文
@zh-mo
2013年論文
@zh-tw
2013年论文
@wuu
name
Phenotypic impact of genomic structural variation: insights from and for human disease.
@ast
Phenotypic impact of genomic structural variation: insights from and for human disease.
@en
Phenotypic impact of genomic structural variation: insights from and for human disease.
@nl
type
label
Phenotypic impact of genomic structural variation: insights from and for human disease.
@ast
Phenotypic impact of genomic structural variation: insights from and for human disease.
@en
Phenotypic impact of genomic structural variation: insights from and for human disease.
@nl
prefLabel
Phenotypic impact of genomic structural variation: insights from and for human disease.
@ast
Phenotypic impact of genomic structural variation: insights from and for human disease.
@en
Phenotypic impact of genomic structural variation: insights from and for human disease.
@nl
P2860
P50
P356
P1476
Phenotypic impact of genomic structural variation: insights from and for human disease.
@en
P2860
P2888
P304
P356
10.1038/NRG3373
P577
2013-02-01T00:00:00Z
P6179
1014282807