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Fine-scale structural variation of the human genome

Nature Genetics

Jul 1, 2005

Eray TuzunEvan E. Eichler

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Abstract

Inversions, deletions and insertions are important mediators of disease and disease susceptibility. We systematically compared the human genome reference sequence with a second genome (represented by fosmid paired-end sequences) to detect intermediate-sized structural variants >8 kb in ...read more

Mentioned in this Paper

Genetic Polymorphism
Genomic Stability
Sequence Determinations, DNA
Cdna Microarrays
Computational Molecular Biology
Base Pairing
Cell Line, Tumor
Inversion Mutation Abnormality
Genome, Human
Body Part Inversion
2
549
1
3
Paper Details
References
  • References23
  • Citations530

Fine-scale structural variation of the human genome

Nature Genetics

Jul 1, 2005

Eray TuzunEvan E. Eichler

PMID: 15895083

DOI: 10.1038/ng1562

Abstract

Inversions, deletions and insertions are important mediators of disease and disease susceptibility. We systematically compared the human genome reference sequence with a second genome (represented by fosmid paired-end sequences) to detect intermediate-sized structural variants >8 kb in ...read more

Mentioned in this Paper

Genetic Polymorphism
Genomic Stability
Sequence Determinations, DNA
Cdna Microarrays
Computational Molecular Biology
2
549
1
3
Paper Details
References
  • References23
  • Citations530

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