Fine-scale structural variation of the human genome
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Summary
This work systematically compared the human genome reference sequence with a second genome to detect intermediate-sized structural variants >8 kb in length and validated 112 of the structural variants, including several that are of biomedical relevance.
- Type
- article
- Published
- 2005-05-15
- Cited by
- 1,084
- References
- 30
- OpenAlex
- https://openalex.org/W15895083
- Semantic Scholar
- https://api.semanticscholar.org/CorpusID:14162962
Keywords
Political science, Humanities, Art
References
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- Recent Segmental Duplications in the Human Genome
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Cited by
- Influence of human genome polymorphism on gene expression.
- Intra- and interindividual epigenetic variation in human germ cells.
- Structural divergence between the human and chimpanzee genomes
- Submicroscopic chromosome imbalance in patients with developmental delay and/or dysmorphism referred specifically for Fragile X testing and karyotype analysis
- MSB: a mean-shift-based approach for the analysis of structural variation in the genome.
- FusionSeq: a modular framework for finding gene fusions by analyzing paired-end RNA-sequencing data
- nFuse: Discovery of complex genomic rearrangements in cancer using high-throughput sequencing
- A Model-Based Clustering Method for Genomic Structural Variant Prediction and Genotyping Using Paired-End Sequencing Data
- Copy Number Variation.
- Managing Structured Collections of Community Data
- Advanced genome-wide screening in human genomic disorders
- Distinguishing somatic and germline copy number events in cancer patient DNA hybridized to whole-genome SNP genotyping arrays.
- Detection of Genomic Inversion from Single End Read
- Detection, interpretation, and functional consequences of genomic copy number variation in human disease
- Detection of Structural Variants Involving Repetitive Regions in the Reference Genome
- Genetic variation within the Daphnia pulex genome
- Caracterización de variantes genómicas. Aplicación de nuevas tecnologías al estudio del retraso mental.
- Characterization of the genetic structure of the azorean population
- Structural variation and its effect on expression.
- Copy-number variation and association studies of human disease
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