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Duplication hotspots, rare genomic disorders, and common disease

Current Opinion in Genetics & Development

Jun 1, 2009

Heather C Mefford, Evan E. Eichler

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Abstract

The human genome is enriched in interspersed segmental duplications that sensitize approximately 10% of our genome to recurrent microdeletions and microduplications as a result of unequal crossing over. We review the recent discovery of recurrent rearrangements within these genomic hots...read more

Mentioned in this Paper

17q21.31
Renal Cysts and Diabetes Syndrome
Congenital Musculoskeletal Anomalies
Psychiatry Specialty
DNA Sequence Rearrangement
Schizophrenia
Genomic Instability
Developmental Disabilities
Crossing Over, Genetic
Epilepsy
Paper Details
References
  • References49
  • Citations108
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Duplication hotspots, rare genomic disorders, and common disease

Current Opinion in Genetics & Development

Jun 1, 2009

Heather C Mefford, Evan E. Eichler

PMID: 19477115

DOI: 10.1016/j.gde.2009.04.003

Abstract

The human genome is enriched in interspersed segmental duplications that sensitize approximately 10% of our genome to recurrent microdeletions and microduplications as a result of unequal crossing over. We review the recent discovery of recurrent rearrangements within these genomic hots...read more

Mentioned in this Paper

17q21.31
Renal Cysts and Diabetes Syndrome
Congenital Musculoskeletal Anomalies
Psychiatry Specialty
DNA Sequence Rearrangement

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Paper Details
References
  • References49
  • Citations108
12345...

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